Experts and Doctors on x chromosome in Houston, Texas, United States


Locale: Houston, Texas, United States
Topic: x chromosome

Top Publications

  1. Collins A, Levenson J, Vilaythong A, Richman R, Armstrong D, Noebels J, et al. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004;13:2679-89 pubmed
    ..Furthermore, these results support the possibility that duplications or gain-of-function mutations in MECP2 might underlie some cases of X-linked delayed-onset neurobehavioral disorders. ..
  2. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 1991;353:529-36 pubmed
  3. Prabhakaran M, Kelley R. A new strategy for isolating genes controlling dosage compensation in Drosophila using a simple epigenetic mosaic eye phenotype. BMC Biol. 2010;8:80 pubmed publisher
    ..This strategy is a promising alternative route for identifying previously unknown components of the dosage compensation pathway and novel alleles of known MSL proteins. ..
  4. Kirkpatrick L, McIlwain K, Nelson D. Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2. Genomics. 2001;78:169-77 pubmed
    ..Knowledge of the genomic structure and sequence of the FXR family of genes will facilitate further studies into the function of these proteins. ..
  5. Tan E, Lim S, Chan L, Wong M, Tan K. X-linked adrenoleukodystrophy: spinocerebellar variant. Clin Neurol Neurosurg. 1999;101:137-40 pubmed
    ..Early recognition of this rare variant would allow proper genetic counselling and institution of dietary therapy and/or bone marrow transplantation. ..
  6. Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, et al. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 1995;81:15-25 pubmed
    ..These data indicate that CDPX is caused by an inherited deficiency of a novel sulfatase and suggest that warfarin embryopathy might involve drug-induced inhibition of the same enzyme...
  7. Herman G, Berry M, Munro E, Craig I, Levy E. The construction of human somatic cell hybrids containing portions of the mouse X chromosome and their use to generate DNA probes via interspersed repetitive sequence polymerase chain reaction. Genomics. 1991;10:961-70 pubmed
    ..1/1. These results demonstrate the feasibility of this method as applied to the mouse genome and the high likelihood of generating useful DNA probes from a targeted region. ..
  8. Pan Y, Decker W, Huq A, Craigen W. Retrotransposition of glycerol kinase-related genes from the X chromosome to autosomes: functional and evolutionary aspects. Genomics. 1999;59:282-90 pubmed
    ..A comparison of the human and mouse GyK-like gene sequences demonstrates the evolutionary relationships between each autosomal isoform and its corresponding X-linked ancestral locus. ..
  9. Casey B, Devoto M, Jones K, Ballabio A. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet. 1993;5:403-7 pubmed
    ..37. Current genetic and physical mapping data assign the order of loci in Xq24-q27.1 as cen-DXS1001-(DXS994, HTX)-DXS984-tel. These results establish the first mapping assignment of situs abnormalities in humans. ..

More Information


  1. de Gouyon B, Zhao W, Laporte J, Mandel J, Metzenberg A, Herman G. Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet. 1997;6:1499-504 pubmed
    ..The low frequency of large deletions and the varied mutations identified suggest that direct mutation screening for molecular diagnosis may require gene sequencing...
  2. Cook M, Cazin C, Amoyel M, Yamamoto S, Bach E, Nystul T. Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes. Genetics. 2017;206:1417-1428 pubmed publisher
    ..Our results demonstrate a critical role for vesicle trafficking in stem cell niche competition and differentiation, and we identify a number of putative candidates for further exploration. ..
  3. Venken K, Popodi E, Holtzman S, Schulze K, Park S, Carlson J, et al. A molecularly defined duplication set for the X chromosome of Drosophila melanogaster. Genetics. 2010;186:1111-25 pubmed publisher
  4. Rohozinski J, Bishop C. The mouse juvenile spermatogonial depletion (jsd) phenotype is due to a mutation in the X-derived retrogene, mUtp14b. Proc Natl Acad Sci U S A. 2004;101:11695-700 pubmed
    ..In jsd homozygotes, which lack a functional copy of Utp14b, insufficient production of rRNA quickly leads to a cessation of spermatogenesis. ..
  5. Bone J, Lavender J, Richman R, Palmer M, Turner B, Kuroda M. Acetylated histone H4 on the male X chromosome is associated with dosage compensation in Drosophila. Genes Dev. 1994;8:96-104 pubmed
    ..Dosage compensation may involve H4Ac16 function, potentially through interaction with the product of the msl genes. ..
  6. Park Y, Kelley R, Oh H, Kuroda M, Meller V. Extent of chromatin spreading determined by roX RNA recruitment of MSL proteins. Science. 2002;298:1620-3 pubmed
    ..We propose that this local production of MSL complexes determines the extent of spreading into flanking chromatin. ..
  7. Carrel T, Purandare S, Harrison W, Elder F, Fox T, Casey B, et al. The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus. Hum Mol Genet. 2000;9:1937-42 pubmed
    ..The presence of anal and spinal abnormalities in some of the human patients and the deletion of Zic3 in BN: mice support a key role for this gene in neural tube development and closure. ..
  8. Van den Veyver I, Cormier T, Jurecic V, Baldini A, Zoghbi H. Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 1998;51:251-61 pubmed
    ..FISH and hybridization to mouse YACs confirmed human and mouse synteny in the order of this gene and other genes in the MLS critical region; however, this gene spans the boundary of the pseudoautosomal region in mouse but not in humans. ..
  9. de Gouyon B, Chatterjee A, Monaco A, Quaderi N, Brown S, Herman G. Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region. Mamm Genome. 1996;7:575-9 pubmed
    ..We believe that the simultaneous isolation of genes from both mouse and human and continued comparative mapping will prove helpful in the eventual identification of MTM1 and other genes in the region. ..
  10. Parrish J, Oostra B, Verkerk A, Richards C, Reynolds J, Spikes A, et al. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet. 1994;8:229-35 pubmed
    ..By sequence analysis, the expanded region contains a GCC repeat. PCR and sequence analysis of chromosomes from the general population indicates that the repeat is polymorphic (6 to 29 triplets), and is stable upon transmission...
  11. Rosenthal W, Seibold A, Antaramian A, Lonergan M, Arthus M, Hendy G, et al. Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature. 1992;359:233-5 pubmed
    ..A different mutation, causing a codon change in the third transmembrane domain of the V2 receptor, was found in the open reading frame of an affected male but not in the unaffected brother belonging to another family suffering from CNDI...
  12. Faust C, Herman G. Physical mapping of the loci Gabra3, DXPas8, CamL1, and Rsvp in a region of the mouse X chromosome homologous to human Xq28. Genomics. 1991;11:154-64 pubmed
    ..Assuming that there is conserved linkage between man and mouse in the region, the physical mapping data presented here may help to clarify the uncertain gene order for some human Xq28 loci. ..
  13. Chamberlain J, Grant S, Reeves A, Mullins L, Stephenson D, Hoffman E, et al. Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome. Somat Cell Mol Genet. 1987;13:671-8 pubmed
    ..However, Southern analysis of portions of the mouse Dmd gene has not yet revealed any differences between mdx and wild-type mice. ..
  14. Zhuchenko O, Wehnert M, Bailey J, Sun Z, Lee C. Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I. Genomics. 1996;37:281-8 pubmed
  15. Chatterjee A, Faust C, Molinari Storey L, Kiochis P, Poustka A, Herman G. A 2.3-Mb yeast artificial chromosome contig spanning from Gabra3 to G6pd on the mouse X chromosome. Genomics. 1994;21:49-57 pubmed
    ..This contig represents the largest one assembled to date in the mouse. It should facilitate the isolation of genes in the region and may aid in the completion of a physical contig for the homologous human region, Xq28. ..
  16. Wapenaar M, Bassi M, Schaefer L, Grillo A, Ferrero G, Chinault A, et al. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum Mol Genet. 1993;2:947-52 pubmed
    ..Ten potential CpG-islands, representing candidate sites for genes, have been mapped within the 2.6 Mb region. Our data should greatly facilitate efforts aimed at cloning the genes for these developmental defects...
  17. Allen R, Armitage R, Conley M, Rosenblatt H, Jenkins N, Copeland N, et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science. 1993;259:990-3 pubmed
    ..Thus, these CD40L defects lead to a T cell abnormality that results in the failure of patient B cells to undergo immunoglobulin class switching. ..
  18. Schiaffino M, Bassi M, Rugarli E, Renieri A, Galli L, Ballabio A. Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum Mol Genet. 1995;4:373-82 pubmed
    ..No functionally significant mutation was identified, suggesting that APXL is not directly involved in OA1. Further studies are needed to clarify the physiologic role of this highly conserved gene...
  19. Albitar M, Manshouri T, Shen Y, Liu D, Beran M, Kantarjian H, et al. Myelodysplastic syndrome is not merely "preleukemia". Blood. 2002;100:791-8 pubmed
  20. Richter L, Bone J, Kuroda M. RNA-dependent association of the Drosophila maleless protein with the male X chromosome. Genes Cells. 1996;1:325-36 pubmed
    ..The potential relationship between interaction with RNA and transcriptional control of the X chromosome suggests that the mechanism of dosage compensation is distinct from classical models for transcriptional activation. ..
  21. van Slegtenhorst M, Bassi M, Borsani G, Wapenaar M, Ferrero G, de Conciliis L, et al. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet. 1994;3:547-52 pubmed
    ..These data suggest that we have identified a new voltage-gated chloride channel which is encoded by a gene located in the distal short arm of the X chromosome. ..
  22. Faust C, Verkerk A, Wilson P, Morris C, Hopwood J, Oostra B, et al. Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes. Genomics. 1992;12:814-7 pubmed
    ..Gene order is conserved between the species, although no fragile site has been detected in the mouse in this region of the murine X chromosome. ..
  23. Yamamoto S, Charng W, Rana N, Kakuda S, Jaiswal M, Bayat V, et al. A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands. Science. 2012;338:1229-32 pubmed publisher
    ..Hence, an evolutionarily conserved valine in EGFr-8 is essential for ligand selectivity and provides a molecular handle to study numerous Notch-dependent signaling events. ..
  24. Oh H, Park Y, Kuroda M. Local spreading of MSL complexes from roX genes on the Drosophila X chromosome. Genes Dev. 2003;17:1334-9 pubmed
    ..Thus, the protein components can carry out all essential functions of dosage compensation, but roX RNAs facilitate the correct targeting of MSL complexes, in part by nucleation of spreading from their sites of synthesis. ..
  25. Qian S, Pirrotta V. Dosage compensation of the Drosophila white gene requires both the X chromosome environment and multiple intragenic elements. Genetics. 1995;139:733-44 pubmed
    ..We conclude that full dosage compensation requires an X chromosome environment and that the white gene contains multiple dosage-compensation determinants, some near the promoter and some in the coding region...
  26. Chatterjee A, Tanaka T, Parrish J, Herman G. Refined mapping of caltractin in human Xq28 and in the homologous region of the mouse X chromosome places the gene within the bare patches (Bpa) and striated (Str) critical regions. Mamm Genome. 1995;6:802-4 pubmed
    ..These mapping studies place the gene within the critical region for the murine X-linked dominant, male lethal mutations bare batches and striated. ..
  27. Stuckenholz C, Kageyama Y, Kuroda M. Guilt by association: non-coding RNAs, chromosome-specific proteins and dosage compensation in Drosophila. Trends Genet. 1999;15:454-8 pubmed
    ..The discovery of non-coding RNAs that 'paint' dosage-compensated X chromosomes in mammals and in Drosophila suggests that RNAs play an intriguing, unexpected role in the regulation of chromatin structure and gene expression. ..
  28. Prakash S, Van den Veyver I, Franco B, Volta M, Ballabio A, Zoghbi H. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 1999;59:77-84 pubmed
    ..3 and was evaluated as a candidate gene for several developmental disorders mapping to this region, including OFD1 and SED tarda, as well as Aicardi syndrome and Goltz syndrome. ..
  29. Li Y, Behringer R. Esx1 is an X-chromosome-imprinted regulator of placental development and fetal growth. Nat Genet. 1998;20:309-11 pubmed
    ..These results identify Esx1 as the first essential X-chromosome-imprinted regulator of placental development that influences fetal growth, and may aid our understanding human placental insufficiency syndromes. ..
  30. Timms K, Bondeson M, Ansari Lari M, Lagerstedt K, Muzny D, Dugan Rocha S, et al. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997;6:479-86 pubmed
    ..Together, these results identify FMR2 as a candidate gene for seizures, when mutated along with IDS...
  31. Huq A, Lovell R, Sampson M, Decker W, Dinulos M, Disteche C, et al. Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase gene. Genomics. 1996;36:530-4 pubmed
    ..To confirm the functional identity of the cDNA, transient transfection of the cDNA into COS7 cells was shown to cause a marked elevation in glycerol kinase activity. ..
  32. Parrish J, Ciccodicola A, Wehhert M, Cox G, Chen E, Nelson D. A muscle-specific DNase I-like gene in human Xq28. Hum Mol Genet. 1995;4:1557-64 pubmed
    ..6% identity to human DNase I. The protein is predicted to contain a signal sequence at the amino terminus, a transmembrane domain near the carboxyl terminus, and a helix-loop-helix domain. ..
  33. Agulnik A, Longepied G, Ty M, Bishop C, Mitchell M. Mouse H-Y encoding Smcy gene and its X chromosomal homolog Smcx. Mamm Genome. 1999;10:926-9 pubmed
  34. Gebbia M, Ferrero G, Pilia G, Bassi M, Aylsworth A, Penman Splitt M, et al. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet. 1997;17:305-8 pubmed
    ..ZIC3, which has not been previously implicated in vertebrate LR-axis development, is the first gene unequivocally associated with human situs abnormalities. ..
  35. Incerti B, Guioli S, Pragliola A, Zanaria E, Borsani G, Tonlorenzi R, et al. Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. Nat Genet. 1992;2:311-4 pubmed
    ..3 and Yq11.2 suggests that the homology between these two regions is the result of a complex series of events which occurred in the recent evolution of sex chromosomes...
  36. Cormier T, Prakash S, Magner D, Zoghbi H, Van den Veyver I. Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mamm Genome. 2001;12:796-8 pubmed
  37. Su H, Mills A, Wang X, Bradley A. A targeted X-linked CMV-Cre line. Genesis. 2002;32:187-8 pubmed
  38. Seibold A, Brabet P, Rosenthal W, Birnbaumer M. Structure and chromosomal localization of the human antidiuretic hormone receptor gene. Am J Hum Genet. 1992;51:1078-83 pubmed
    ..The V2R gene was localized by PCR using DNA from hybrid cells as template. The gene was found to reside in the q28-qter portion of the human X chromosome, a region identified as the locus for congenital nephrogenic diabetes insipidus. ..
  39. Qin Y, Poirier C, Truong C, Schumacher A, Agoulnik A, Bishop C. A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice. Hum Mol Genet. 2003;12:509-15 pubmed
    ..The close proximity of Smad2, Smad7 and Smad4 to D18Mit189/210 provides a potential mechanism through which Odsm1 might act. ..
  40. Faust C, Levinson B, Gitschier J, Herman G. Extension of the physical map in the region of the mouse X chromosome homologous to human Xq28 and identification of an exception to conserved linkage. Genomics. 1992;13:1289-95 pubmed
  41. Aradhya S, Woffendin H, Bonnen P, Heiss N, Yamagata T, Esposito T, et al. Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28. Genomics. 2002;79:31-40 pubmed
    ..Collectively, these data highlight some interesting features of the genomic sequence in Xq28 and will be useful for positional cloning efforts, mouse mutagenesis studies, and further evolutionary analyses. ..
  42. Aradhya S, Bardaro T, Galgoczy P, Yamagata T, Esposito T, Patlan H, et al. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet. 2001;10:2557-67 pubmed
    ..Together, these data describe an unusual and complex genomic region that is susceptible to various types of pathogenic and polymorphic rearrangements, including the recurrent lethal deletion associated with IP. ..
  43. Patel P, Lupski J. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet. 1994;10:128-33 pubmed
  44. Wayne C, Maclean J, Cornwall G, Wilkinson M. Two novel human X-linked homeobox genes, hPEPP1 and hPEPP2, selectively expressed in the testis. Gene. 2002;301:1-11 pubmed
    ..We conclude that we identified two human homeobox genes from the PEPP subfamily that are good candidates to encode transcription factors that regulate downstream genes and biological events in the human testis. ..
  45. Yang X, Matsuda K, Bialek P, Jacquot S, Masuoka H, Schinke T, et al. ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome. Cell. 2004;117:387-98 pubmed
    ..These findings identify ATF4 as a critical regulator of osteoblast differentiation and function, and indicate that lack of ATF4 phosphorylation by RSK2 may contribute to the skeletal phenotype of CLS. ..
  46. Pizzuti A, Gennarelli M, Novelli G, Colosimo A, Lo Cicero S, Caskey C, et al. Human elongation factor EF-1 beta: cloning and characterization of the EF1 beta 5a gene and assignment of EF-1 beta isoforms to chromosomes 2,5,15 and X. Biochem Biophys Res Commun. 1993;197:154-62 pubmed
    ..We also assigned the loci for three other EF-1 beta isoforms, to human chromosomes 2, 15 and X. The multiple chromosomal assignments of EF-1 beta loci demonstrates the genetic heterogeneity of human EF-1 beta peptides. ..
  47. Hammond S, Zhu R, Youngren K, Lam J, Anderson P, Matin A. Chromosome X modulates incidence of testicular germ cell tumors in Ter mice. Mamm Genome. 2007;18:832-8 pubmed
    ..Thus, our studies provide unambiguous evidence that genetic factors from Chr X modulate the incidence of germ cell tumors in mice with inactivated Dnd1...
  48. Kelley R, Meller V, Gordadze P, Roman G, Davis R, Kuroda M. Epigenetic spreading of the Drosophila dosage compensation complex from roX RNA genes into flanking chromatin. Cell. 1999;98:513-22 pubmed
    ..The spreading can occur in cis or in trans between paired homologs. We present a model for how the dosage compensation complex recognizes X chromatin. ..
  49. Bellott D, Hughes J, Skaletsky H, Brown L, Pyntikova T, Cho T, et al. Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature. 2014;508:494-9 pubmed publisher
  50. Gu Y, Shen Y, Gibbs R, Nelson D. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996;13:109-13 pubmed
    ..Identification of this gene will facilitate further studies to determine the role of its product in FRAXE associated mental deficiency. ..
  51. Borsani G, Tonlorenzi R, Simmler M, Dandolo L, Arnaud D, Capra V, et al. Characterization of a murine gene expressed from the inactive X chromosome. Nature. 1991;351:325-9 pubmed
    ..Nucleotide sequence analysis indicates that Xist may be associated with a protein product. The similar map positions and expression patterns for Xist in mouse and man suggest that this gene may have a role in X inactivation. ..
  52. Zhao M, Rohozinski J, Sharma M, Ju J, Braun R, Bishop C, et al. Utp14b: a unique retrogene within a gene that has acquired multiple promoters and a specific function in spermatogenesis. Dev Biol. 2007;304:848-59 pubmed
    ..The novel cell-type-specific promoter for Utp14b likely evolved later, as the protein may have acquired a germ cell-specific function in spermatid development. ..
  53. Galera P, Park R, Ducy P, Mattei M, Karsenty G. c-Krox binds to several sites in the promoter of both mouse type I collagen genes. Structure/function study and developmental expression analysis. J Biol Chem. 1996;271:21331-9 pubmed
    ..Thus, our findings suggest that c-Krox is one transcription factor controlling the coordinated expression of the two type I collagen genes in skin. ..