sry genes

Summary

Summary: The primary testis-determining gene in mammalians, located on the Y CHROMOSOME. It codes for a high mobility group box transcription factor (TRANSCRIPTION FACTORS) which initiates the development of the TESTES from the embryonic GONADS.

Top Publications

  1. ncbi Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases
    Gloria Queipo
    Hospital General de Mexico Facultad de Medicina, UNAM, Dr Balmis 148 Col Doctores CP 06726, Mexico City, Mexico
    Hum Genet 111:278-83. 2002
  2. ncbi Delayed Sry and Sox9 expression in developing mouse gonads underlies B6-Y(DOM) sex reversal
    Monica Bullejos
    Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia
    Dev Biol 278:473-81. 2005
  3. ncbi Direct regulation of adult brain function by the male-specific factor SRY
    Phoebe Dewing
    Department of Human Genetics, University of California, Los Angeles, Los Angles, California 90095, USA
    Curr Biol 16:415-20. 2006
  4. ncbi Assignment of SRY, ANT3, and CSF2RA to the bovine Y chromosome by FISH and RH mapping
    Wan Sheng Liu
    Department of Animal Biotechnology, College of Agriculture, Biotechnology, and Natural Resources, University of Nevada, Reno, Nevada 89557, USA
    Anim Biotechnol 15:103-9. 2004
  5. ncbi Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature
    Nouha Bouayed Abdelmoula
    Laboratoire d Histologie Embryologie, Faculte de Medecine de Sfax, Avenue Magida Boulila, CP 3029, Sfax, Tunisia
    Ann Genet 46:11-8. 2003
  6. ncbi Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry
    Yangjun Qin
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 14:1221-9. 2005
  7. ncbi A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis
    Richard Kellermayer
    Department of Medical Genetics, University of Pecs, Pecs, Hungary
    Diagn Mol Pathol 14:159-63. 2005
  8. ncbi 46,XX male: clinical, hormonal/genetic findings
    G Castineyra
    Division Endocrinologia, Hospital Carlos Durand, Buenos Aires, Argentina
    Arch Androl 48:251-7. 2002
  9. ncbi Presence of fetal DNA in maternal plasma decades after pregnancy
    Pietro Invernizzi
    Division of Internal Medicine, Department of Medicine, Surgery and Dentistry, San Paolo School of Medicine, University of Milan, Via di Rudini 8, 20142 Milan, Italy
    Hum Genet 110:587-91. 2002
  10. ncbi Sexually dimorphic expression of the X-linked gene Eif2s3x mRNA but not protein in mouse brain
    Jun Xu
    Department of Physiological Science and Laboratory of Neuroendocrinology of the Brain Research Institute, University of California, Los Angeles, 90095 1606, USA
    Gene Expr Patterns 6:146-55. 2006

Research Grants

  1. FUNCTIONS OF SRY AND SRY INTERACTIVE PROTEIN GENES
    Yun Fai Chris Lau; Fiscal Year: 2004
  2. GENETIC DETERMINANTS OF BRAIN SEXUAL DIFFERENTIATION
    Arthur Arnold; Fiscal Year: 2001
  3. ALCOHOL BENZODIAZEPHINES AND AGGRESSION IN ANIMALS
    KLAUS MICZEK; Fiscal Year: 2002
  4. Sex Differences in Dopamine Systems
    Arthur Arnold; Fiscal Year: 2006
  5. STEM CELL THERAPY IN ACUTE RENAL FAILURE
    Fangming Lin; Fiscal Year: 2007
  6. PSYCHOMOTOR STIMULANTS AND AGGRESSION IN ANIMALS
    KLAUS MICZEK; Fiscal Year: 2008
  7. Somatic support cell function in gonad development
    GERRIT BOUMA; Fiscal Year: 2006
  8. NEURAL AND HORMONAL BASES OF VOCALIZATION
    Arthur Arnold; Fiscal Year: 2008

Detail Information

Publications178 found, 100 shown here

  1. ncbi Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases
    Gloria Queipo
    Hospital General de Mexico Facultad de Medicina, UNAM, Dr Balmis 148 Col Doctores CP 06726, Mexico City, Mexico
    Hum Genet 111:278-83. 2002
    ....
  2. ncbi Delayed Sry and Sox9 expression in developing mouse gonads underlies B6-Y(DOM) sex reversal
    Monica Bullejos
    Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia
    Dev Biol 278:473-81. 2005
    ....
  3. ncbi Direct regulation of adult brain function by the male-specific factor SRY
    Phoebe Dewing
    Department of Human Genetics, University of California, Los Angeles, Los Angles, California 90095, USA
    Curr Biol 16:415-20. 2006
    ..These results demonstrate a direct male-specific effect on the brain by a gene encoded only in the male genome, without any mediation by gonadal hormones...
  4. ncbi Assignment of SRY, ANT3, and CSF2RA to the bovine Y chromosome by FISH and RH mapping
    Wan Sheng Liu
    Department of Animal Biotechnology, College of Agriculture, Biotechnology, and Natural Resources, University of Nevada, Reno, Nevada 89557, USA
    Anim Biotechnol 15:103-9. 2004
    ....
  5. ncbi Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature
    Nouha Bouayed Abdelmoula
    Laboratoire d Histologie Embryologie, Faculte de Medecine de Sfax, Avenue Magida Boulila, CP 3029, Sfax, Tunisia
    Ann Genet 46:11-8. 2003
    ....
  6. ncbi Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry
    Yangjun Qin
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 14:1221-9. 2005
    ..These data indicate that activation of SOX9 in the gonad is sufficient to trigger all the downstream events needed for the development of a fully fertile male and provide evidence that Sox9 may down-regulate Wnt4 expression in the gonad...
  7. ncbi A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis
    Richard Kellermayer
    Department of Medical Genetics, University of Pecs, Pecs, Hungary
    Diagn Mol Pathol 14:159-63. 2005
    ..The present findings further support the functional importance of the putative DNA binding activity of the SRY HMG-box domain...
  8. ncbi 46,XX male: clinical, hormonal/genetic findings
    G Castineyra
    Division Endocrinologia, Hospital Carlos Durand, Buenos Aires, Argentina
    Arch Androl 48:251-7. 2002
    ..Testing new chromosomal markers should be of great value in the definition of clinical difference...
  9. ncbi Presence of fetal DNA in maternal plasma decades after pregnancy
    Pietro Invernizzi
    Division of Internal Medicine, Department of Medicine, Surgery and Dentistry, San Paolo School of Medicine, University of Milan, Via di Rudini 8, 20142 Milan, Italy
    Hum Genet 110:587-91. 2002
    ..This finding has practical implications for non-invasive prenatal diagnoses based on maternal blood, and may be considered for possible pathophysiological correlations...
  10. ncbi Sexually dimorphic expression of the X-linked gene Eif2s3x mRNA but not protein in mouse brain
    Jun Xu
    Department of Physiological Science and Laboratory of Neuroendocrinology of the Brain Research Institute, University of California, Los Angeles, 90095 1606, USA
    Gene Expr Patterns 6:146-55. 2006
    ..The sex difference in Eif2s3x transcript appears not to be preserved at the protein level, since no difference in the levels of Eif2s3 protein was found between (1) males and females (2) XX and XY mice, or (3) XO and XX females...
  11. ncbi Expression of sex-determining genes in human sebaceous glands and their possible role in the pathogenesis of acne
    W Chen
    Department of Dermatology, Chang Gung Memorial Hospital Kaohsiung Medical Center, Chang Gung University, College of Medicine, Kaohsiung, Taiwan
    J Eur Acad Dermatol Venereol 20:846-52. 2006
    ..Factors regulating cutaneous steroidogenesis associated with disease status remain largely unknown...
  12. ncbi Exclusion of candidate genes for canine SRY-negative XX sex reversal
    K Kothapalli
    J A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA
    J Hered 96:759-63. 2005
    ..Our results indicate that the mutation causing canine SRY-negative XX sex reversal in this pedigree is unlikely to be located in regions containing these candidates...
  13. ncbi Mapping the SRY gene in Microtus cabrerae: a vole species with multiple SRY copies in males and females
    Rosa Fernandez
    Departamento de Psicobiologia, Facultad Ciencias de la Educación, Universidad de A Coruna, Spain
    Genome 45:600-3. 2002
    ..These copies are spread along the entire heterochromatic region of the X chromosome, occupying the whole short arm, the centromeric region, and the pericentromeric region of the long arm...
  14. ncbi Cell proliferation is necessary for the determination of male fate in the gonad
    Jennifer Schmahl
    Department of Cell Biology, Duke University, Durham, NC 27710, USA
    Dev Biol 258:264-76. 2003
    ..We believe these studies suggest that proliferation is involved not only in the elaboration of organ pattern, but also in the choice between patterns (male and female) in the bipotential gonad...
  15. ncbi Wnt4 is required for proper male as well as female sexual development
    Katherine Jeays-Ward
    Section of Gene Function and Regulation, Institute of Cancer Research, 237 Fulham Road, London SW3 6JB, UK
    Dev Biol 276:431-40. 2004
    ..These results identify WNT4 as a new factor involved in the mammalian testis determination pathway and show that genes can have a specific but distinct role in both male and female gonad development...
  16. pmc Profiling gene expression during the differentiation and development of the murine embryonic gonad
    Christopher L Small
    Center for Reproductive Biology, School of Molecular Biosciences, Washington State University, Pullman, Washington 99164, USA
    Biol Reprod 72:492-501. 2005
    ..With this study, a large number of transcripts comprising the murine transcriptome can be examined throughout male and female embryonic gonad development and allow for a more complete description of gonad differentiation and development...
  17. pmc Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations
    Vincent R Harley
    Prince Henry s Institute of Medical Research, Melbourne 3168, Victoria, Australia
    Proc Natl Acad Sci U S A 100:7045-50. 2003
    ..This study documents cases of human disease being explained, at a molecular level, by the impaired ability of a protein to accumulate in the nucleus...
  18. ncbi Prenatal genotyping of RHD and SRY using maternal blood
    I Randen
    Department of Immunology and Transfusion Medicine, Ulleval University Hospital, Oslo, Norway
    Vox Sang 85:300-6. 2003
    ..Duplex PCR, amplifying RHD and SRY in the same tube, was undertaken. The effect of varying storage temperatures on the concentration of fetal DNA was investigated in a separate study involving 10 RhD-negative pregnant women...
  19. ncbi Dax1 is required for testis determination
    Joshua J Meeks
    Division of Endocrinology, Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA
    Nat Genet 34:32-3. 2003
    ..The orphan nuclear receptor, Dax1, was originally proposed to act as an 'anti-testis' factor. We find, however, that Nr0b1 (also called Dax1 and Ahch, which encodes Dax1) is in fact required for testis differentiation...
  20. ncbi [Sex differentiation and sex chromosomes]
    Toshikatsu Shinka
    Department of Human Genetics and Public Health, Graduate School of Proteomics, Faculty of Medicine, University of Tokushima
    Nihon Rinsho 62:247-54. 2004
    ..Furthermore, the duplication of the partial region on the X chromosome including DAX-1 gene can also cause male-to-female sex reversal. The sex-determining system seems to be sensitive for the gene dosage or the gene expression level...
  21. ncbi [Sex differentiation of the mammalian gonad]
    Ken ichirou Morohashi
    Tanpakushitsu Kakusan Koso 49:130-4. 2004
  22. ncbi Sry and the genetics of sex determination
    Brian K Jordan
    Department of Human Genetics, UCLA School of Medicine, Los Angeles, California, USA
    Adv Exp Med Biol 511:1-13; discussion 13-4. 2002
  23. ncbi A sporadic case of the sex-reversed mare (64,XY; SRY-negative): molecular and cytogenetic studies of the Y chromosome
    Monika Bugno
    Department of Immuno and Cytogenetics, National Research Institute of Animal Production, ul Krakowska 1, 32 083 Balice, Poland
    Theriogenology 59:1597-603. 2003
    ..It is postulated that during spermatogenesis in the sire two crossing-over events between the X and Y chromosomes occurred. One of them took place between the ZFY and SRY loci and another one between the SRY locus and the centromere...
  24. ncbi DNA methylation-mediated control of Sry gene expression in mouse gonadal development
    Koichiro Nishino
    Department of Animal Resource Sciences Veterinary Medical Sciences, The University of Tokyo, Yayoi 1 1 1, Bukyo ku, Tokyo 113 8657
    J Biol Chem 279:22306-13. 2004
    ..5 dpc, while the hypermethylated status was maintained in tissues that do not express the Sry gene. We concluded that expression of the Sry gene is under the control of an epigenetic mechanism mediated by DNA methylation...
  25. ncbi Feasibility study for a microchip-based approach for noninvasive prenatal diagnosis of genetic diseases
    L Cremonesi
    Unit of Genomics for Diagnosis of Human Pathologies, Milan, Italy
    Ann N Y Acad Sci 1022:105-12. 2004
    ..The addition of peptide nucleic acids (PNAs) to either the PCR reaction or the chip hybridization mixture allowed approximately 50% inhibition of wild-type allele signals...
  26. ncbi Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes
    J G Assumpção
    Centro de Biologia Molecular e Engenharia Genetica, Universidade Estadual de Campinas, 13083 970 Campinas, SP, Brazil
    J Mol Med (Berl) 80:782-90. 2002
    ..The R30I mutation is located upstream to the HMG box, within the (29)RRSSS(33) phosphorylation site. The E. coli expressed SRY(R30I) protein was poorly phosphorylated and consequently showed reduced DNA-binding capacity in vitro...
  27. ncbi [The genetics of sex determination]
    Francois Vialard
    Service d Histologie, Embryologie, cytogenetique, Biologie de la Reproduction et Génétique Médicale, CHI Poissy Sant Germain, Poissy
    J Soc Biol 196:197-205. 2002
    ..Today, we still do not know how their products are epistatic in the sex determining cascade. So far no ovary sex determining gene has been characterised...
  28. ncbi Sry and the hesitant beginnings of male development
    Juan Carlos Polanco
    Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
    Dev Biol 302:13-24. 2007
    ..What is clear is that instead of the robust gene one might expect as the pillar of male sexual development, Sry function hangs by a thin thread, a situation that has profound biological, medical and evolutionary implications...
  29. ncbi Amplification and application of the HMG box of bovine SRY gene for sex determination
    Wenfa Lu
    College of Animal Science and Technology, Jilin Agricultural University, Changchun 130118, PR China
    Anim Reprod Sci 100:186-91. 2007
    ....
  30. ncbi A case of an intersex horse with 63,X/64,XX/65,XX,del(Y)(q?) karyotype
    M Bugno
    Department of Immuno and Cytogenetics, National Research Institute of Animal Production, Balice Kraków Equine Hospital in Gliwice, Gliwice, Poland
    Cytogenet Genome Res 120:123-6. 2008
    ..These results suggest that the Y chromosome fragment detected in the investigated animal was the result of a deletion of a euchromatic fragment comprising the above-mentioned markers...
  31. ncbi [Overview: molecular mechanisms of sex determination and differentiation in animals--generality and diversity]
    Yoshitaka Nagahama
    Tanpakushitsu Kakusan Koso 49:97-101. 2004
  32. ncbi Sex chromosome chimerism and the freemartin syndrome in Rideau Arcott sheep
    M D Brace
    Department of Biomedical Science, Ontario Veterinary College, University of Guelph, Guelph, ON, Canada
    Cytogenet Genome Res 120:132-9. 2008
    ..Moreover, as it was shown that opposite sex cells can migrate to tissues other than blood and be transcriptionally active in chimeric sheep, we speculate on the role they can play in these animals...
  33. pmc Epigenetic inactivation of the canonical Wnt antagonist SRY-box containing gene 17 in colorectal cancer
    Wei Zhang
    Division of Cancer Biology, The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University, Baltimore, MD 21231, USA
    Cancer Res 68:2764-72. 2008
    ....
  34. ncbi Sex determining of cat embryo and some feline species
    Francesca Ciani
    Department of Biological Structures, Functions and Technologies, University of Naples Federico II, Via F Delpino, 1 80137 Naples, Italy
    Zygote 16:169-77. 2008
    ..This technique, therefore, affords investigators a new approach that they can insert in the safeguard programmes of felida biodiversity...
  35. ncbi Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and amenorrhoea
    Deepak Modi
    Cell Biology Department, Research Society, Bai Jerbai Wadia Hospital for Children, Parel, Mumbai, India
    Reprod Biomed Online 15:547-53. 2007
    ....
  36. ncbi Sex chromosome complement regulates habit formation
    Jennifer J Quinn
    Division of Molecular Psychiatry, Yale University, Connecticut Mental Health Center Abraham Ribicoff Research Facilities, 34 Park Street, New Haven, Connecticut 06508, USA
    Nat Neurosci 10:1398-400. 2007
    ....
  37. ncbi Human FATE is a novel X-linked gene expressed in fetal and adult testis
    C Olesen
    Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, Institute of Medical Biochemistry and Genetics, University of Copenhagen, DK 2200 Copenhagen N, Denmark
    Mol Cell Endocrinol 184:25-32. 2001
    ..We propose that FATE might represent a novel target gene of SF-1 in human testicular differentiation and/or germ cell development...
  38. ncbi 46,XX sex reversal
    J C Zenteno-Ruiz
    Department of Genetics, Hospital General de Mexico-Facultad de Medicina, , Mexico City, Mexico
    Arch Med Res 32:559-66. 2001
    ....
  39. ncbi Onset of sex differentiation: dialog between genes and cells
    H Merchant-Larios
    Departamento de Biologia Celular y Fisiologia, Instituto de Investigaciones Biomedicas, Universidad Nacional Autonoma de Mexico, Mexico City, Mexico
    Arch Med Res 32:553-8. 2001
    ..Here, a correlation between known gene expression and gonadal morphologic changes is attempted...
  40. ncbi Erratic evolution of SRY in higher primates
    Xiaoxia Wang
    Mol Biol Evol 19:582-4. 2002
  41. ncbi Sry promoters from domesticus (Tirano) and C57BL/6 mice function similarly in embryos and adult animals
    M Xian
    Division of Cell and Developmental Genetics, Department of Medicine, VA Medical Center, UCSF, San Francisco, California 94121, USA
    J Exp Zool 290:632-41. 2001
    ..These results are discussed with reference to a second hypothesis invoking incompatible protein interaction(s) as a mechanism of aberrant sex determination in B6.Y(Dom) animals...
  42. pmc Genomic and expression analysis of multiple Sry loci from a single Rattus norvegicus Y chromosome
    Monte E Turner
    Department of Biology, The University of Akron, Akron, OH 44325 3908, USA
    BMC Genet 8:11. 2007
    ..We applied this fragment analysis method to both genomic DNA and cDNA prepared from mRNA from testis and adrenal gland of adult male rats...
  43. ncbi Phylogenetic relationships among cetaceans revealed by Y-chromosome sequences
    Shin Nishida
    Department of Biodiversity, Graduate School of Social and Cultural Studies, Kyushu University, Fukuoka, Japan
    Zoolog Sci 24:723-32. 2007
    ..The low homoplasy exhibited by the Y-chromosome data presented here suggests that an extended data set incorporating longer sequences would provide better resolution of cetacean lower-level pylogeny...
  44. pmc Increased serum heat-shock protein 70 levels reflect systemic inflammation, oxidative stress and hepatocellular injury in preeclampsia
    Attila Molvarec
    1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary
    Cell Stress Chaperones 14:151-9. 2009
    ..Nevertheless, further studies are required to determine whether circulating Hsp70 plays a causative role in the pathogenesis of the disease...
  45. ncbi Molecular evolution of Sry and Sox gene
    K Nagai
    Tokyo Medical University, Department of Biochemistry, 160 8402, Tokyo, Japan
    Gene 270:161-9. 2001
    ..The functional relationship of Sox to Sry genes with special reference to sex determination is unclear except for a few items such as human autosomal Sox9...
  46. ncbi Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1
    Yumiko Matsuzawa-Watanabe
    Department of Cancer Biology, The Institute of Medical Science, The University of Tokyo, 4 6 1 Shirokanedai, Minato ku, Tokyo 108 8639, Japan
    Oncogene 22:7900-4. 2003
    ..These results suggest that WT1 forms a complex with SRY to regulate transcription and that this WT1-SRY interaction is important in testis development...
  47. ncbi PCR-based methodology for molecular microchimerism detection and quantification
    Josep Maria Pujal
    Translational Research Laboratory, Institut Catala d Oncologia, Hospital Duran i Reynals, Avda Gran Via s n, Km 2 7, 08907 L Hospitalet de Llobregat, Barcelona, Spain
    Exp Biol Med (Maywood) 233:1161-70. 2008
    ..In conclusion, the standardization of molecular microchimerism detection techniques will allow for comparable interpretation of results in microchimerism detection for diagnostic or research studies...
  48. ncbi The porcine SRY promoter is transactivated within a male genital ridge environment
    Isabelle Daneau
    Faculty of Veterinary Medicine, University of Montreal, Saint Hyacinthe, Quebec, Canada
    Genesis 33:170-80. 2002
    ..This site is conserved in the 5' flanking sequences of bovine and human SRY genes but not in the mouse gene...
  49. ncbi Transplantation of neonatal cardiomyocytes plus fibrin sealant restores myocardial function in a rat model of myocardial infarction
    Yong shun Li
    Department of Thorax cardiovascular Surgery, Second Hospital of Lanzhou University, Lanzhou 730000, China
    Chin Med J (Engl) 120:2022-7. 2007
    ..Most cardiac regenerative approaches can restore injured heart muscles. In this study, we investigated if fibrin sealant could help neonatal cardiomyocytes restore myocardial function in a rat model of myocardial infarction...
  50. pmc A gene that is related to SRY and is expressed in the testes encodes a leucine zipper-containing protein
    N Takamatsu
    Department of Biosciences, School of Science, Kitasato University, Kanagawa, Japan
    Mol Cell Biol 15:3759-66. 1995
    ..striking contrast to the abrupt loss of amino acid sequence homology outside the HMG box found among mammalian SRY genes. In both rainbow trout and mice, Northern (RNA) blot analyses have revealed the presence of a testis-specific 3-..
  51. pmc Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis
    J R Hawkins
    Human Molecular Genetics Laboratory, Imperial Cancer Research Fund, London, United Kingdom
    Am J Hum Genet 51:979-84. 1992
    ..The presence of SRY mutations in three of five patients suggests that the frequency of SRY mutations in XY females is higher than current estimates...
  52. pmc Neurobiology of escalated aggression and violence
    Klaus A Miczek
    Department of Psychology, Tufts University, Medford, Massachusetts 02155, USA
    J Neurosci 27:11803-6. 2007
    ..Work with Sts or Sry genes suggests so far that other genes on the X chromosomes may have a more critical role in female mouse aggression...
  53. ncbi Anorectal anomalies associated with or as part of other anomalies
    Alfred Cuschieri
    Department of Anatomy, University of Malta, Msida
    Am J Med Genet 110:122-30. 2002
    ..The differential sex involvement in different types of anal anomaly may be manifestations of expression of the HY/SRY genes during blastogenesis or of X-linkage.
  54. ncbi Sex determining gene expression during embryogenesis
    R Lovell-Badge
    Laboratory of Eukaryotic Molecular Genetics, MRC National Institute for Medical Research, Mill Hill, London, U K
    Philos Trans R Soc Lond B Biol Sci 339:159-64. 1993
    ..Sequence comparisons between Sry genes from various species suggest that the HMG box is the only functional part of the protein...
  55. ncbi cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18
    T Azuma
    Helix Research Institute, Kisarazu, Chiba, Japan
    J Hum Genet 45:192-5. 2000
    ..By polymerase chain reaction (PCR)-based analyses with both a human/rodent monochromosomal hybrid cell panel and a radiation hybrid panel, the gene was mapped to the chromosome 20q13.33 region...
  56. ncbi Polymorphism of a CAG trinucleotide repeat within Sry correlates with B6.YDom sex reversal
    P Coward
    Department of Medicine, VA Medical Center, University of California, San Francisco 94121
    Nat Genet 6:245-50. 1994
    ..We have analysed the Sry genes from several domesticus-type Y chromosomes and show that they encode smaller proteins than the molossinus-type ..
  57. ncbi The human and mouse sex-determining SRY genes repress the Rspol/beta-catenin signaling
    Yun Fai Chris Lau
    Division of Cell and Developmental Genetics, Department of Medicine, VA Medical Center, University of California, San Francisco, CA 94121, USA
    J Genet Genomics 36:193-202. 2009
    ....
  58. ncbi Conservation of read-through transcription of the Drosophila serendipity genes during evolution is gratuitous
    S Ibnsouda
    Centre de Biologie du Developpement, UMR 5547, CNRS Université Paul Sabatier, Toulouse, France
    Mol Gen Genet 259:484-90. 1998
    ..This conclusion is supported by the autonomous rate of evolutionary sequence divergence shown by each individual sry gene...
  59. pmc A W-linked DM-domain gene, DM-W, participates in primary ovary development in Xenopus laevis
    Shin Yoshimoto
    Department of Bioscience, School of Science, Kitasato University, 1 15 1 Kitasato, Sagamihara, Kanagawa 228 8555, Japan
    Proc Natl Acad Sci U S A 105:2469-74. 2008
    In the XX/XY sex-determining system, the Y-linked SRY genes of most mammals and the DMY/Dmrt1bY genes of the teleost fish medaka have been characterized as sex-determining genes that trigger formation of the testis...
  60. ncbi Expression and characterization of Xenopus laevis SRY-related cDNAs, xSox17alpha1, xSox17alpha2, xSox18alpha and xSox18beta
    Masanori Hasegawa
    Department of Anatomy, Keio University School of Medicine, 35 Shinanomachi, Shinjuku ku, Tokyo, Japan
    Gene 290:163-72. 2002
    ..4 knt. Electrophoretic mobility shift assays indicated that recombinant xSox18 polypeptide was capable of binding to the HMG consensus nucleotide sequence, AACAAT...
  61. ncbi Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal
    J R Hawkins
    Imperial Cancer Research Fund, London, UK
    Hum Genet 88:471-4. 1992
    ..The number of de novo mutations in SRY is now doubled to four, adding further strength to the argument that SRY is TDF...
  62. pmc Genetic characterization of two 46,XX males without gonadal ambiguities
    Agata Minor
    Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC, Canada
    J Assist Reprod Genet 25:547-52. 2008
    ..To evaluate hypotheses which explain phenotypic variability in sex determining region Y positive 46,XX males. We investigate two 46,XX males without gonadal ambiguities...
  63. ncbi [Investigation of the role of hepatic oval cell in primary hepatocarcinogenesis using specific Y chromosome]
    Chi hua Fang
    Department of Hepatobiliary Surgery, Zhujiang Hospital, Southern Medical University, Guangzhou, China
    Zhonghua Wai Ke Za Zhi 44:1501-4. 2006
    ..To determine the role of hepatic oval cell in primary hepatocarcinogenesis using specific Y chromosome...
  64. ncbi Evolution of the Sry genes
    P Pamilo
    Department of Genetics, University of Uppsala, Sweden
    Mol Biol Evol 14:49-55. 1997
    ..We did not find good support for the hypothesis that the high evolutionary rate of Sry would be associated with a promiscuous mating system...
  65. ncbi Isolation and characterization of Xenopus laevis xSox-B1 cDNA
    Y Sakai
    Department of Anatomy, Keio University School of Medicine, Tokyo, Japan
    Arch Biochem Biophys 346:1-6. 1997
    ..The message of the xSox-B1 gene was also detected in unfertilized eggs and the late blastula embryos of X. laevis. Recombinant polypeptide of the xSox-B1 HMG domain preferentially binds to the AACAAT sequence...
  66. ncbi Sex identification in mammals with polymerase chain reaction and its use to examine sex effects on diameter of day-10 or -11 pig embryos
    D Pomp
    Department of Animal Science, Oklahoma State University, Stillwater 74078, USA
    J Anim Sci 73:1408-15. 1995
    ....
  67. ncbi The murine gene encoding parathyroid hormone: genomic organization, nucleotide sequence and transcriptional regulation
    B He
    Department of Medicine, SMBD Jewish General Hospital, Lady Davis Institute for Medical Research, McGill University, 3755 Cote Ste Catherine Road, Montreal, Quebec H3T 1E2, Canada
    J Mol Endocrinol 29:193-203. 2002
    ..Mutational analysis identified a cAMP-response element in the Pth promoter...
  68. pmc SRY-related genes in the genome of the rice field eel (Monopterus albus)
    Rongjia Zhou
    Department of Genetics and Center for Developmental Biology, College of Life Sciences, Wuhan University, Wuhan 430072, PR China
    Genet Sel Evol 34:129-37. 2002
    ..Similar structure and identity of the Sox9 and Sox17 genes among mammals, chickens and fish suggest that these genes have evolutionarily conserved roles, potentially including sex determination and differentiation...
  69. ncbi The control of sexual differentiation of the reproductive system and brain
    C A Wilson
    Basic Medical Sciences, Clinical Developmental Sciences, St George s, University of London, Cranmer Terrace, Tooting, London SW17 0RE, UK
    Reproduction 133:331-59. 2007
    ..In view of current environmental concerns, a brief summary of the effects of endocrine disruptors on sexual differentiation is presented...
  70. ncbi Female long-tailed macaques with scrotum-like structure
    Suchinda Malaivijitnond
    Primate Research Unit, Department of Biology, Faculty of Science, Chulalongkorn University, Bangkok, Thailand
    Am J Primatol 69:721-35. 2007
    ..To understand whether the scrotum-like swelling is related to geographical distribution, further study is necessary...
  71. ncbi Fetal origin of single nucleated erythroblasts and free DNA in the peripheral blood of pregnant women
    H P Chen
    Department of Gynecology and Obstetrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
    Int J Gynaecol Obstet 85:1-5. 2004
    ..To investigate the feasibility of using single fetal nucleated erythroblasts (FNRBCs) and free DNA in maternal blood for non-invasive prenatal diagnosis...
  72. ncbi A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal
    J G Assumpção
    Centro de Biologia Molecular e Engenharia Genética CBMEG, Universidade Estadual de Campinas, Sao Paulo, Brasil
    J Endocrinol Invest 28:651-6. 2005
    ..Additionally, upon familial investigation the father, who had 18 genital surgeries due to severe hypospadia without cryptorchidism, was found to bear the same deletion and several relatives were referred to have sexual ambiguity...
  73. ncbi A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter-->q11::q11-->pter)
    Rosa Fernandez
    Departamento de Psicobiologia, Universidade da Coruna, Campus Elviña, 15071 A Coruna, Espana
    Hum Genet 111:242-6. 2002
    ..To our knowledge, this is the first time that a mutation has been described in codon 59 within the HMG- SRY box, and also the first case of a psu dic(Yp) chromosome that displays two different copies of the SRY gene...
  74. ncbi [Studies on phenotype-genotype association and X-monosomy mosaicism in the human sex differentiation abnormality]
    Yasushi Handa
    Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Hokkaido Igaku Zasshi 77:477-90. 2002
  75. ncbi Mesenchymal stem cells adopt beta-cell fate upon diabetic pancreatic microenvironment
    Caihong Chang
    Department of Immunology Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
    Pancreas 38:275-81. 2009
    ..This study observed whether mesenchymal stem cells (MSCs) adopt beta-cell fate upon diabetic microenvironment...
  76. ncbi Mutational analysis of SRY in XY females
    J R Hawkins
    Hum Mutat 2:347-50. 1993
    ....
  77. ncbi Fetal DNA quantitation in peripheral blood is not useful as a marker of disease severity in women with preeclampsia
    Bridgette M Byrne
    Department of Obstetrics and Gynaecology, University College Dublin, Coombe Womens Hospital, Dublin, Ireland
    Hypertens Pregnancy 22:157-64. 2003
    ..We hypothesised that 'fetal trafficking' is increased in women with severe preeclampsia and that the quantity of trafficking is greater in women with more severe disease...
  78. ncbi Fetal sex determination of macaque monkeys by a nested PCR using maternal plasma
    Fusako Mitsunaga
    Department of Cellular and Molecular Biology, Primate Research Institute, Kyoto University, Inuyama, Aichi, Japan
    Exp Anim 59:255-60. 2010
    ..Interestingly, fetal SRY DNA appeared to be cleared rapidly from the maternal blood after parturition. The current method is sensitive and can be performed with a regular PCR machine...
  79. ncbi Geographic origin of the Y chromosomes in "old" inbred strains of mice
    P K Tucker
    Jackson Laboratory, Bar Harbor, Maine 04609
    Mamm Genome 3:254-61. 1992
    ..musculus males. These data indicate that a minimum of six male mice contributed to the formation of the old inbred strains...
  80. ncbi Validation of SRY marker for forensic casework analysis
    Vanja Kastelic
    Forensic Science Centre, Ministry of the Interior, Vodovodna 95, Ljubljana, Slovenia
    J Forensic Sci 54:551-5. 2009
    ..No polymerase chain reaction product was observed even at a concentration of 10 ng/microL of template female DNA. Additionally, the male specific marker could be detected in mixed male and female samples down to a ratio of 1:16...
  81. ncbi Sex determination and SRY: down to a wink and a nudge?
    Ryohei Sekido
    Division of Developmental Genetics, Medical Research Council, National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Trends Genet 25:19-29. 2009
    ..We also explore the common features between sex determination in mammals and in other vertebrates that lack Sry...
  82. ncbi A molecular method for classifying the genotypes obtained in a breeding colony from testicular feminized (Tfm) rats
    R Fernandez
    Department of Psychobiology, University of A Coruna, Spain
    Horm Metab Res 35:197-200. 2003
  83. ncbi Normal male chromosome complement and a lack of the SRY and SOX9 gene mutations in a male pseudohermaphrodite dog
    J Nowacka-Woszuk
    Department of Genetics and Animal Breeding, Agricultural University of Poznan, Poland
    Anim Reprod Sci 98:371-6. 2007
    ..Blood testosterone concentration was low (0.75 ng/ml), thus the androgen insensitivity syndrome could be excluded. We suggest that this case may represent a persistent Müllerian duct syndrome...
  84. ncbi An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16
    Johannnes G Dauwerse
    Center for Human Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 AL Leiden, The Netherlands
    Fertil Steril 86:463.e1-5. 2006
    ..To report a case of a 46,XX male with an insertion of the sex-determining region Y (SRY) region in the terminal end of the long arm of chromosome 16...
  85. ncbi [Confirmation of the extra small chromosome in abnormality karyotype by PCR and FISH]
    Zhi Gang Xue
    National Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 30:657-9. 2005
    ..To investigate the source of the extra small chromosome in a patient with karyotype 45,X[115]/46,X + mar[45]/46,XY[29]...
  86. ncbi Isolation and sequence analysis of the Sox-1, -2, -3 homologs in Trionyx sinensis and Alligator sinensis having temperature-dependent sex determination
    Jifang Zheng
    Instiute of Geneties, College of Life Sciences, Zhejiang University, Hangzhou 310012, P R China
    Biochem Genet 44:101-12. 2006
    ....
  87. ncbi Genetic analysis of a family with 46,XY "female" associated with infertility
    Xu Wang
    Human Genome Research Center and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074 China
    Yi Chuan Xue Bao 33:19-25. 2006
    ....
  88. ncbi Identification of male cardiomyocytes of extracardiac origin in the hearts of women with male progeny: male fetal cell microchimerism of the heart
    Antoni Bayes-Genis
    Servei de Cardiologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    J Heart Lung Transplant 24:2179-83. 2005
    ..Whether extracardiac fetal progenitors are present in the heart of women with male issue is unknown...
  89. ncbi Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive
    Qiu Yue Wu
    Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, 305 East Zhongshan Road, Nanjing 210002, PR China
    BMC Urol 14:70. 2014
    ..To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene...
  90. ncbi [Abnormal Y chromosome and impairment of sex determination]
    Toshikatsu Shinka
    Department of Human Genetics and Public Health, Graduate School of Proteomics, The University of Tokushima
    Nihon Rinsho . 2006
  91. ncbi Primers for the differential amplification of the sex-determining region Y gene in a range of mammal species
    R Griffiths
    AFRC Unit of Ecology and Behaviour, Department of Zoology, Oxford, UK
    Mol Ecol 2:405-6. 1993
  92. ncbi Detection of Y-chromosome in gonadal tumours using fluorescence in situ hybridization: diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome
    C J R Stewart
    Department of Histopathology, King Edward Memorial Hospital, Perth, Western Australia, Australia
    Histopathology 52:175-82. 2008
    ....
  93. ncbi Developmental and hormonal regulation of the expression of oligodendrocyte-specific protein/claudin 11 in mouse testis
    A Hellani
    INSERM, U 407, Communications Cellulaires en Biologie de la Reproduction, Faculté de médecine Lyon Sud, Oullins, France
    Endocrinology 141:3012-9. 2000
    ....
  94. ncbi Tumors of dysgenetic gonads in Swyer syndrome
    Dorota Zieliñska
    Departament of Gynecological Surgery and Oncology of Adult and Adolescents, Pomeranian Medical University, 70 111 Szczecin, Poland
    J Pediatr Surg 42:1721-4. 2007
    ..The female with Swyer syndrome requires close follow-up because of the high risk of neoplastic transformation in the dysgenetic gonads. The aim of this work was to present our experience with tumors in patients with Swyer syndrome...
  95. ncbi [Early prenatal diagnosis using fetal cells acquired from different sites of uterine cervix: a preliminary study]
    Li Zhang
    Departmet of Obstetrics and Gynecology, Shanghai Medical College of Fudan University, Shanghai 200032, China
    Zhonghua Yi Xue Za Zhi 86:2343-7. 2006
    ..To compare the presence of fetal cells in the transcervical lavage fluids obtained at different levels of uterine cervix so as to evaluate the better sampling place for early prenatal diagnosis...
  96. ncbi From brain determination to testis determination: evolution of the mammalian sex-determining gene
    J A Graves
    Research School of Biological Sciences, Australian National University, Canberra, ACT
    Reprod Fertil Dev 13:665-72. 2001
    ..The absence of SRY in two species of the mole vole (Ellobius) suggests that its useful life is already running out...
  97. ncbi A comparative genomic hybridization study in a 46,XX male
    M Angels Rigola
    Unitat de Biologia, Departament de Biologia Cellular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autonoma de Barcelona, Barcelona, Spain
    Fertil Steril 78:186-8. 2002
    ..To identify Y chromosome material in an azoospermic male with an XX karyotype...
  98. ncbi PRINS for mapping single-copy genes
    Avirachan T Tharapel
    Department of Pediatrics, University of Tennessee, Memphis, TN, USA
    Methods Mol Biol 338:59-67. 2006
    ..With further development, the PRINS method may prove useful for localization of single-copy genes, in general, and for the detection of gene deletions...
  99. ncbi Gonadoblastoma in Turner syndrome and Y-chromosome-derived material
    Laura Mazzanti
    Department of Pediatrics, Pediatric Clinic, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy
    Am J Med Genet A 135:150-4. 2005
    ....
  100. ncbi A model system for study of sex chromosome effects on sexually dimorphic neural and behavioral traits
    Geert J De Vries
    Center for Neuroendocrine Studies, University of Massachusetts, Amherst, Massachusetts 01003 9333, USA
    J Neurosci 22:9005-14. 2002
    ..Moreover, two male groups differing only in the form of their Sry gene showed differences in behavior. The results show that sex chromosome genes contribute directly to the development of a sex difference in the brain...
  101. ncbi Non-invasive prenatal diagnosis of fetal gender using real-time polymerase chain reaction amplification of SRY in maternal plasma
    S S Y Ho
    Department of Obstetrics and Gynaecology, National University Hospital, Singapore
    Ann Acad Med Singapore 33:S61-2. 2004

Research Grants8

  1. FUNCTIONS OF SRY AND SRY INTERACTIVE PROTEIN GENES
    Yun Fai Chris Lau; Fiscal Year: 2004
    ..Chimeric Sry genes will be constructed to harbor various combinations of HMG box and Q-rich domain from different mouse strains ..
  2. GENETIC DETERMINANTS OF BRAIN SEXUAL DIFFERENTIATION
    Arthur Arnold; Fiscal Year: 2001
    ..g., Alzheimer's Disease and Multiple Sclerosis). ..
  3. ALCOHOL BENZODIAZEPHINES AND AGGRESSION IN ANIMALS
    KLAUS MICZEK; Fiscal Year: 2002
    ....
  4. Sex Differences in Dopamine Systems
    Arthur Arnold; Fiscal Year: 2006
    ..e.g., Multiple Sclerosis). Understanding sex differences in brain function will help develop sex-specific strategies for treatment of brain diseases. ..
  5. STEM CELL THERAPY IN ACUTE RENAL FAILURE
    Fangming Lin; Fiscal Year: 2007
    ....
  6. PSYCHOMOTOR STIMULANTS AND AGGRESSION IN ANIMALS
    KLAUS MICZEK; Fiscal Year: 2008
    ..Reversal of cross-sensitization from stress may be a means by which to prevent the transition to out-of-control compulsive-like drug taking. ..
  7. Somatic support cell function in gonad development
    GERRIT BOUMA; Fiscal Year: 2006
    ..The proposed experiments will identify genes expressed in gonadal SSCs that play a role in gonadal XY sex reversal. ..
  8. NEURAL AND HORMONAL BASES OF VOCALIZATION
    Arthur Arnold; Fiscal Year: 2008
    ..The proposed experiments will shed light on genetic and hormonal mechanisms of brain sexual differentiation, and may provide new understanding of sex differences in brain development and disease. ..