Genomes and Genes
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.
- Tomaiuolo M, Greco P, Grandone E. Early identification in maternal blood of fetal sex in the presence of fetal DNA from previous pregnancies. Int J Gynaecol Obstet. 2007;96:202-3 pubmed
- Pasińska M, Haus O, Skonieczka K, Slezak R, Midro A, Stasiewicz Jarocka B, et al. [The results of cytogenetic and molecular genetic examinations in 35 couples with primary sterility]. Wiad Lek. 2006;59:38-43 pubmed..Because of 17.14% risk of the presence of chromosome aberrations in these couples, cytogenetic analysis should be an obligatory element of infertility diagnosis. ..
- Shyu M, Yuan R, Shih J, Wu M, Kuo Y, Chien C, et al. Kinetics and functional assay of liver repopulation after human cord blood transplantation. Dig Liver Dis. 2007;39:455-65 pubmed..Moreover, the detailed information collected regarding the kinetics of human cell repopulation in mouse liver will be of relevance to future studies examining the use of umbilical cord blood cells in liver transplantation therapy. ..
- Turner M, Martin C, Martins A, Dunmire J, Farkas J, Ely D, et al. Genomic and expression analysis of multiple Sry loci from a single Rattus norvegicus Y chromosome. BMC Genet. 2007;8:11 pubmed..Both the DNA sequence analysis and RNA transcript expression analysis are consistent with more than one copy having function and selection preventing divergence although we have no functional evidence. ..
- Wang H, Teng Y, Tian H, Tang Y, Chen Y, Yang Z. Analysis of SRY gene in 8 cases of sex abnormality. J Huazhong Univ Sci Technolog Med Sci. 2004;24:503-6 pubmed..In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries...
- Marin J, Saucedo C, Corti P, González B. Application of DNA forensic techniques for identifying poached guanacos (Lama guanicoe) in Chilean Patagonia*. J Forensic Sci. 2009;54:1073-6 pubmed publisher..This is the first report of molecular tools being used in forensic investigations of Chilean wildlife indicating its promising future application in guanaco management and conservation. ..
- Zhang H, Yang X, Jin B, Zhou Z. [46, XX testicular disorder of sex development: report of 2 cases and review of the literature]. Zhonghua Nan Ke Xue. 2010;16:345-8 pubmed
- Kikuchi I, Takeuchi H, Kinoshita K. [XY type gonadal dysgenesis, trisomy X and variants]. Nihon Rinsho. 2004;62:309-12 pubmed..It has been reported that about 20% of cases of trisomy X have sexual dysfunction, predominantly with primary amenorrha. ..
- Dennis C. Brain development: the most important sexual organ. Nature. 2004;427:390-2 pubmed
- Meeks J, Weiss J, Jameson J. Dax1 is required for testis determination. Nat Genet. 2003;34:32-3 pubmed..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. ..
- Harley V, Layfield S, Mitchell C, Forwood J, John A, Briggs L, et al. Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations. Proc Natl Acad Sci U S A. 2003;100:7045-50 pubmed..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. ..
- Xian M, Zhang J, Lau Y. Sry promoters from domesticus (Tirano) and C57BL/6 mice function similarly in embryos and adult animals. J Exp Zool. 2001;290:632-41 pubmed..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. ..
- Sheikh A, Lin S, Cao F, Cao Y, van der Bogt K, Chu P, et al. Molecular imaging of bone marrow mononuclear cell homing and engraftment in ischemic myocardium. Stem Cells. 2007;25:2677-84 pubmed..Specifically, we have demonstrated that systemically delivered BMMCs preferentially home to and are retained by injured myocardium. Disclosure of potential conflicts of interest is found at the end of this article. ..
- Bugno M, Zabek T, Golonka P, Pienkowska Schelling A, Schelling C, Słota E. A case of an intersex horse with 63,X/64,XX/65,XX,del(Y)(q?) karyotype. Cytogenet Genome Res. 2008;120:123-6 pubmed publisher..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. ..
- Ito M, Miyagishi M, Murata C, Kawasaki H, Baba T, Tachi C, et al. Down-regulation of endogenous Wt1 expression by Sry transgene in the murine embryonic mesonephros-derived M15 cell line. J Reprod Dev. 2006;52:415-27 pubmed..e., turning on Sry expression on one hand, and being down-regulated by its product, Sry, on the other, possibly forming a type of negative feed-back mechanism. Further work is needed to substantiate this view...
- Shahid M, Dhillon V, Aslam M, Husain S. Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome. J Clin Endocrinol Metab. 2005;90:2429-35 pubmed..Lack of a second sex chromosome in a majority of cells [mosaic karyotype and mutation(s) in the SRY gene] in these patients may have triggered the short stature. ..
- Fernandez R, Barragán M, Bullejos M, Marchal J, Martinez S, Díaz de la Guardia R, et al. Mapping the SRY gene in Microtus cabrerae: a vole species with multiple SRY copies in males and females. Genome. 2002;45:600-3 pubmed..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. ..
- Suter S, Gouthro T, McSweeney P, Nash R, Haskins M, Felsburg P, et al. Isolation and characterization of pediatric canine bone marrow CD34+ cells. Vet Immunol Immunopathol. 2004;101:31-47 pubmed
- Mitsuhashi T, Warita K, Sugawara T, Tabuchi Y, Takasaki I, Kondo T, et al. Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome. Congenit Anom (Kyoto). 2010;50:85-94 pubmed publisher..The findings suggest that correct regulation of SRY expression is crucial for normal male sex differentiation, even if SRY is translated normally. ..
- Bianco B, Oliveira K, Guedes A, Barbosa C, Lipay M, Verreschi I. OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome. Fertil Steril. 2010;94:2347-9 pubmed publisher..The expression analysis of genes OCT4, SRY, and TSPY in the dysgenetic gonads of Turner syndrome patients may allow introducing modifications in the microenvironment that could contributed to a malignant transformation process. ..
- Stewart C, Baker E, Beaton C, Crook M, Peverall J, Wallace S. 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. Histopathology. 2008;52:175-82 pubmed publisher
- Zenteno J, Carranza Lira S, Jimenez A, Kofman S. A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis. J Endocrinol Invest. 2003;26:1117-9 pubmed
- Gannage M, Amoura Z, Lantz O, Piette J, Caillat Zucman S. Feto-maternal microchimerism in connective tissue diseases. Eur J Immunol. 2002;32:3405-13 pubmed..Therefore, feto-maternal microchimerism is a common event in both healthy controls and patients with connective tissue diseases, and is unlikely to represent per se a risk factor for these diseases. ..
- Lin C, Rajakumar A, Plymire D, Verma V, Markovic N, Hubel C. Maternal endothelial progenitor colony-forming units with macrophage characteristics are reduced in preeclampsia. Am J Hypertens. 2009;22:1014-9 pubmed publisher..PCR analysis is consistent with a maternal origin of these cells. ..
- Sim H, Rimmer K, Kelly S, Ludbrook L, Clayton A, Harley V. Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal. Mol Endocrinol. 2005;19:1884-92 pubmed..CaM recognition could underlie XY sex reversal. Given that the CaM-binding region of SRY is well-conserved among high mobility group box proteins, CaM-dependent nuclear import may underlie additional disease states. ..
- Chen H, Wang T, Xu J, Xu X, Dangol S, He G. Fetal origin of single nucleated erythroblasts and free DNA in the peripheral blood of pregnant women. Int J Gynaecol Obstet. 2004;85:1-5 pubmed..61% (38/46) and 90.77% (59/65), respectively. Single nucleated erythroblasts and free DNA in maternal blood are of fetal origin and can be valuable fetal material sources for non-invasive prenatal diagnosis. ..
- Spierings E, Vermeulen C, Vogt M, Doerner L, Falkenburg J, Mutis T, et al. Identification of HLA class II-restricted H-Y-specific T-helper epitope evoking CD4+ T-helper cells in H-Y-mismatched transplantation. Lancet. 2003;362:610-5 pubmed..This component completes the H-Y-directed alloimmune response and aids understanding of the poorer outcome of sex-mismatched transplants. ..
- Cupp A, Uzumcu M, Skinner M. Chemotactic role of neurotropin 3 in the embryonic testis that facilitates male sex determination. Biol Reprod. 2003;68:2033-7 pubmed
- Zheng J, Zhu M. Isolation and sequence analysis of the Sox-1, -2, -3 homologs in Trionyx sinensis and Alligator sinensis having temperature-dependent sex determination. Biochem Genet. 2006;44:101-12 pubmed
- Nie Y, Ding X, Deng L, Wei P, Wang H. [Detection of the SRY gene by primed in situ labeling]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25:701-3 pubmed..3 in all metaphases. These signals were as distinct as that from results of FISH. This improved method is ideal for rapidly localizing single copy genes and small DNA segments. And PRINS is a cost- and time-effective alternative to FISH. ..
- Premi S, Srivastava J, Panneer G, Ali S. Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome. PLoS ONE. 2008;3:e3796 pubmed publisher..Thus, a comprehensive analysis of more number of samples is warranted to uncover consensus on the loci affected, to be able to use them as potential diagnostic markers. ..
- Ginalski K, Rychlewski L, Baker D, Grishin N. Protein structure prediction for the male-specific region of the human Y chromosome. Proc Natl Acad Sci U S A. 2004;101:2305-10 pubmed..The data presented here set up the basis for additional scientific discoveries in human biology of the Y chromosome, which plays a fundamental role in sex determination. ..
- Quinn J, Hitchcott P, Umeda E, Arnold A, Taylor J. Sex chromosome complement regulates habit formation. Nat Neurosci. 2007;10:1398-400 pubmed
- Bartha J, Finning K, Soothill P. Fetal sex determination from maternal blood at 6 weeks of gestation when at risk for 21-hydroxylase deficiency. Obstet Gynecol. 2003;101:1135-6 pubmed..Analysis of cell-free fetal deoxyribonucleic acid in maternal plasma for fetal sex determination might reduce the need for corticosteroid administration and CVS in women with fetuses at risk for 21-hydroxylase deficiency. ..
- Slezak R. [Genetic bases of human sex determination and differentiation]. Ginekol Pol. 2002;73:796-805 pubmed..Detailed knowledge concerning above mentioned genes will enhance our understanding of etiology of sexual development abnormalities. ..
- Modi D, Shah C, Sachdeva G, Gadkar S, Bhartiya D, Puri C. Ontogeny and cellular localization of SRY transcripts in the human testes and its detection in spermatozoa. Reproduction. 2005;130:603-13 pubmed..These results suggest that SRY may have extensive roles in male reproductive physiology, such as maturation of fetal testis, spermatogenesis, sperm maturation and early embryonic development. ..
- Marshall Graves J. The rise and fall of SRY. Trends Genet. 2002;18:259-64 pubmed..At the observed rate of attrition, the human Y chromosome will be gone in 5-10 million years. This could lead to the extinction of our species or to a burst of hominid speciation. ..
- Invernizzi P, Biondi M, Battezzati P, Perego F, Selmi C, Cecchini F, et al. Presence of fetal DNA in maternal plasma decades after pregnancy. Hum Genet. 2002;110:587-91 pubmed..This finding has practical implications for non-invasive prenatal diagnoses based on maternal blood, and may be considered for possible pathophysiological correlations. ..
- Xue Z, Li Y, Yao Z, Long Z, Dai H, Wu L, et al. [Confirmation of the extra small chromosome in abnormality karyotype by PCR and FISH]. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2005;30:657-9 pubmed..SRY gene is detected positive and the mar chromosome showed positive signal with FISH in human chromosome Y probe pool. The extra small chromosome is part of the chromosome Y. ..
- Zhang Z, Ohkohchi N, Sakurada M, Mizuno Y, Miyagi S, Satomi S, et al. Analysis of urinary donor-derived DNA in renal transplant recipients with acute rejection. Clin Transplant. 2002;16 Suppl 8:45-50 pubmed
- Zhong C, Li L, Lu G. [Rapid carrier detection and prenatal gene diagnosis in DMD/BMD families by linkage analysis]. Hunan Yi Ke Da Xue Xue Bao. 2002;27:573-4 pubmed
- Costa J, Benachi A, Gautier E, Jouannic J, Ernault P, Dumez Y. [First trimester fetal sex determination in maternal serum using real-time PCR]. Gynecol Obstet Fertil. 2002;30:953-7 pubmed..Prenatal diagnosis is thus performed for male fetuses only, avoiding invasive procedures and the risk of fetal loss for female fetuses. ..
- Boyer A, Lussier J, Sinclair A, McClive P, Silversides D. Pre-sertoli specific gene expression profiling reveals differential expression of Ppt1 and Brd3 genes within the mouse genital ridge at the time of sex determination. Biol Reprod. 2004;71:820-7 pubmed..We conclude that combining transgenically marked fluorescent cell populations with differential expression screening is useful for cell expression profiling in developmental systems such as sex determination and differentiation. ..
- Matsuda M, Shinomiya A, Kinoshita M, Suzuki A, Kobayashi T, Paul Prasanth B, et al. DMY gene induces male development in genetically female (XX) medaka fish. Proc Natl Acad Sci U S A. 2007;104:3865-70 pubmed..Our data indicate that DMY is an additional sex-determining gene in vertebrates. ..
- Sakuma Y. [Sex differentiation in the brain]. Nihon Seirigaku Zasshi. 2006;68:355-67 pubmed
- Sekido R, Lovell Badge R. Mechanisms of gonadal morphogenesis are not conserved between chick and mouse. Dev Biol. 2007;302:132-42 pubmed
- Nagai T, Ogata T. [XX male]. Nihon Rinsho. 2006;Suppl 2:519-21 pubmed
- Arnold A, Burgoyne P. Are XX and XY brain cells intrinsically different?. Trends Endocrinol Metab. 2004;15:6-11 pubmed..Although X and Y genes probably influence brain phenotype in a sex-specific manner, much more information is needed to identify the magnitude and character of these effects. ..
- Klein O, Backstrand K, Cotter P, Marco E, Sherr E, Slavotinek A. Case report: Y;6 translocation with deletion of 6p. Clin Dysmorphol. 2005;14:93-6 pubmed..Cytogenetic analysis showed the karyotype 46,XX,der(6)t(Y;6)(p11.2;p23).ish der(6)(SRY+,6pTEL48-). The effects of partial monosomy 6p are discussed and compared to other patients with interstitial and terminal 6p deletions. ..
- Prabhakara K, Angalena R, Ramadevi A. Familial (9;11)(p22;p15.5)pat translocation and XX sex reversal in a phenotypic boy with cryptorchidism and delayed development. Genet Couns. 2004;15:37-41 pubmed..The co-occurrence of XX sex reversal and autosomal reciprocal translocation has not been described previously. The possible reasons for the manifestation of features other than those found in XX sex reversal is described. ..
- Ohmuro Matsuyama Y, Matsuda M, Kobayashi T, Ikeuchi T, Nagahama Y. Expression of DMY and DMRT1 in various tissues of the medaka (Oryzias latipes) [corrected]. Zoolog Sci. 2003;20:1395-8 pubmed..The results show that the transcripts of both DMY and DMRT1 are present not only in testes but also in several other tissues from fry and adults of medaka. ..
- Deng B, Quan Y, Pan X, Zhang B, Liao D, Jiang K, et al. [Study on evaluating sex determining region of the Y as an engrafting track of BMSCs transplantation for repairing osteonecrosis of the femoral head of rabbit]. Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2009;23:1118-23 pubmed..Allografting of BMSCs transplanted into the femoral head can survive and induce new bone formation without redistribution. ..