Experts and Doctors on x chromosome in United States


Locale: United States
Topic: x chromosome

Top Publications

  1. Grant S, Mattei M, Galland F, Stephenson D, Keitz B, Birnbaum D, et al. Localization of the mouse Mcf-2 (Dbl) protooncogene within a conserved linkage group on the mouse X chromosome. Cytogenet Cell Genet. 1990;54:175-81 pubmed
    ..Thus, the map location and linkage relationships of the Mcf-2 gene are similar in man and mouse, and this unique protooncogenic locus is part of a conserved linkage group on the mammalian X chromosome. ..
  2. Brown S, Rhoads D, Stewart M, Van Slyke B, Chen I, Johnson T, et al. Ribosomal protein S14 is encoded by a pair of highly conserved, adjacent genes on the X chromosome of Drosophila melanogaster. Mol Cell Biol. 1988;8:4314-21 pubmed
    ..Drosophila RPS14 was mapped to region 7C5-9 on the X chromosome. This interval also encodes a previously characterized Minute locus, M(1)7C. ..
  3. Aruffo A, Farrington M, Hollenbaugh D, Li X, Milatovich A, Nonoyama S, et al. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell. 1993;72:291-300 pubmed
    ..The gene encoding gp39 was mapped to Xq26, the X chromosome region where the gene responsible for HIM had previously been mapped. These data suggest that a defect in gp39 is the basis of X-linked HIM. ..
  4. Hendrich B, Brown C, Willard H. Evolutionary conservation of possible functional domains of the human and murine XIST genes. Hum Mol Genet. 1993;2:663-72 pubmed
    ..Finally, a possible molecular basis for differing propensity toward X inactivation between Xce alleles in mouse is investigated by comparing the sequence of the Xist conserved 5' repeats in mouse strains carrying different Xce alleles. ..
  5. Min K, Benzer S. Spongecake and eggroll: two hereditary diseases in Drosophila resemble patterns of human brain degeneration. Curr Biol. 1997;7:885-8 pubmed
    ..The mutant eggroll develops dense, multilamellated structures in the brain, resembling ones found in lipid storage diseases such as Tay-Sachs [8]. ..
  6. Wildin R, Ramsdell F, Peake J, Faravelli F, Casanova J, Buist N, et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet. 2001;27:18-20 pubmed
    ..We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions. ..
  7. Harris D, Orme C, Kramer J, Namba L, Champion M, Palladino M, et al. A deficiency screen of the major autosomes identifies a gene (matrimony) that is haplo-insufficient for achiasmate segregation in Drosophila oocytes. Genetics. 2003;165:637-52 pubmed
  8. Greenberg A, Yanowitz J, Schedl P. The Drosophila GAGA factor is required for dosage compensation in males and for the formation of the male-specific-lethal complex chromatin entry site at 12DE. Genetics. 2004;166:279-89 pubmed
    ..Here, we report that mutations in Trithorax-like (Trl) lead to the loss of a single chromatin entry site on the X, male lethality, and mislocalization of dosage compensation complexes. ..
  9. Machado H, Renn S. A critical assessment of cross-species detection of gene duplicates using comparative genomic hybridization. BMC Genomics. 2010;11:304 pubmed publisher
    ..The results of this study should inform the interpretation of both previously published and future work that employs this powerful technique. ..

More Information

Publications117 found, 100 shown here

  1. Hong B, Reeves P, Panning B, Swanson M, Yang T. Identification of an autoimmune serum containing antibodies against the Barr body. Proc Natl Acad Sci U S A. 2001;98:8703-8 pubmed
    ..This demonstration of an autoantibody recognizing an antigen(s) associated with the Barr body presents a strategy for identifying molecular components of the Barr body and examining the molecular basis of X inactivation...
  2. Caldas H, Cunningham D, Wang X, Jiang F, Humphries L, Kelley R, et al. Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme. Mol Genet Metab. 2005;84:48-60 pubmed
  3. Boyer G, Nonneman D, Shibuya H, Stoy S, O BRIEN D, Johnson G. A PCR-RFLP marker for the erythroid aminolevulinate synthase gene (ALAS2) on canine chromosome X. Anim Genet. 1995;26:206-7 pubmed
  4. Hornstra I, Nelson D, Warren S, Yang T. High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum Mol Genet. 1993;2:1659-65 pubmed
    ..abstract truncated at 250 words) ..
  5. Zori R, Gardner J, Zhang J, Mullan M, Shah R, Osborn A, et al. Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome. Am J Med Genet. 1998;78:450-4 pubmed
    ..Linkage analysis with polymorphic DNA markers maps the disease locus in this unique family to the long arm of the human X chromosome between DXS1220 and DXS1205 in Xq23-27...
  6. Elliott R, Miller D, Pearsall R, Hohman C, Zhang Y, Poslinski D, et al. Genetic analysis of testis weight and fertility in an interspecies hybrid congenic strain for Chromosome X. Mamm Genome. 2001;12:45-51 pubmed
    ..8 map units for Ihtw1. This region of the genetic map is orthologous to the region on human Chr X containing the gene for the Borjeson-Forssman-Lehman syndrome, an inherited disease in which males show microorchidism. ..
  7. Ooi S, Priess J, Henikoff S. Histone H3.3 variant dynamics in the germline of Caenorhabditis elegans. PLoS Genet. 2006;2:e97 pubmed
    ..Our demonstration of dynamic H3.3 incorporation in nondividing cells provides a mechanistic basis for chromatin changes during germ cell development. ..
  8. Cook K, Parks A, Jacobus L, Kaufman T, Matthews K. New research resources at the Bloomington Drosophila Stock Center. Fly (Austin). 2010;4:88-91 pubmed
    ..We also describe additions to sets of insertions and molecularly defined chromosomal deficiencies, the creation of a new Deficiency Kit, and planned additions of X chromosome duplication sets. ..
  9. Broman K. Genotype probabilities at intermediate generations in the construction of recombinant inbred lines. Genetics. 2012;190:403-12 pubmed publisher
    ..In addition, I present a number of useful quantities, including single-locus genotype probabilities, two-locus haplotype probabilities, and the fixation probability and map expansion at each generation along the course to inbreeding. ..
  10. Fuller C, Insel P. I don't know the question, but sex is definitely the answer! Focus on "In pursuit of scientific excellence: sex matters" and "Do you know the sex of your cells?". Am J Physiol Cell Physiol. 2014;306:C1-2 pubmed publisher
  11. Hiraizumi Y, Albracht J, Albracht B. X-linked elements associated with negative segregation distortion in the SD system of Drosophila melanogaster. Genetics. 1994;138:145-52 pubmed
    ..Some type of "switch" mechanism in the directions of distortion is suggested for each of these two elements and their effects appear to be approximately additive. ..
  12. Nguyen D, Disteche C. Dosage compensation of the active X chromosome in mammals. Nat Genet. 2006;38:47-53 pubmed
    ..Upon fertilization, upregulation of the active X must occur to achieve the observed dosage compensation in early embryos. ..
  13. Sweigart A. Simple Y-autosomal incompatibilities cause hybrid male sterility in reciprocal crosses between Drosophila virilis and D. americana. Genetics. 2010;184:779-87 pubmed publisher
    ..americana alleles at a single QTL on chromosome 5. Finally, in contrast with findings from other Drosophila species pairs, the X chromosome has only a modest effect on hybrid male sterility between D. virilis and D. americana. ..
  14. Chandra R, Federici S, Németh Z, Horváth B, Pacher P, Hasko G, et al. Female X-chromosome mosaicism for NOX2 deficiency presents unique inflammatory phenotype and improves outcome in polymicrobial sepsis. J Immunol. 2011;186:6465-73 pubmed publisher
    ..This study suggests that mice mosaic for gp91phox expression have multiple advantages compared with WT and deficient mice during the septic course. ..
  15. Muller H, Wieschaus E. armadillo, bazooka, and stardust are critical for early stages in formation of the zonula adherens and maintenance of the polarized blastoderm epithelium in Drosophila. J Cell Biol. 1996;134:149-63 pubmed
    ..These results suggest that early stages in the assembly of the ZA are critical for the stability of the polarized blastoderm epithelium...
  16. Wong A, Ruhe A, Dumont B, Robertson K, Guerrero G, Shull S, et al. A comprehensive linkage map of the dog genome. Genetics. 2010;184:595-605 pubmed publisher
    ..The computational and wet-bench strategies can be applied to the reference genome of any nonmodel organism to assemble a de novo linkage map. ..
  17. Liu X, Dangel A, Kelley R, Zhao W, Denny P, Botcherby M, et al. The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Nat Genet. 1999;22:182-7 pubmed
    ..They also expand the spectrum of phenotypes associated with abnormalities of cholesterol metabolism. ..
  18. Bender L, Suh J, Carroll C, Fong Y, Fingerman I, Briggs S, et al. MES-4: an autosome-associated histone methyltransferase that participates in silencing the X chromosomes in the C. elegans germ line. Development. 2006;133:3907-17 pubmed
    ..We discuss how an autosomally associated HMT may participate in silencing genes on the X chromosome, in coordination with the direct silencing effects of the other MES proteins. ..
  19. Kirkpatrick B, Monson R. Sensitive sex determination assay applicable to bovine embryos derived from IVM and IVF. J Reprod Fertil. 1993;98:335-40 pubmed
    ..Embryonic and fetal gender determinations agreed in 11 of 12 cases with the twelfth yielding an ambiguous result from fetal ultrasound examination. ..
  20. Chadwick B, Willard H. A novel chromatin protein, distantly related to histone H2A, is largely excluded from the inactive X chromosome. J Cell Biol. 2001;152:375-84 pubmed
    ..The distribution of H2A-Bbd thus distinguishes chromatin on the active and inactive X chromosomes. ..
  21. Weleber R, Pillers D, Powell B, Hanna C, Magenis R, Buist N. Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. Arch Ophthalmol. 1989;107:1170-9 pubmed
    ..We also recommend that the gene symbols CSNB1 and CSNB2 be used for complete congenital stationary night blindness and Aland disease, respectively. ..
  22. Brown C, Miller A, Carrel L, Rupert J, Davies K, Willard H. The DXS423E gene in Xp11.21 escapes X chromosome inactivation. Hum Mol Genet. 1995;4:251-5 pubmed
    ..Thus the DXS423E and XE169 genes define a new region in the proximal short arm of the X chromosome that is not subject to X chromosome inactivation, supporting a regional basis for escape from inactivation. ..
  23. Yen C, Elliott R. Characterization of a Mus spretus YAC that maps to the pseudoautosomal region. Genomics. 1997;39:19-29 pubmed
    ..Sequences homologous to the clone are also present at subtelomeric regions of autosomes 4, 9, and 13. ..
  24. White M, Steffy B, Wiltshire T, Payseur B. Genetic dissection of a key reproductive barrier between nascent species of house mice. Genetics. 2011;189:289-304 pubmed publisher
    ..domesticus autosomal alleles. Our results reveal a complex genetic architecture for hybrid male sterility and suggest a prominent role for reproductive barriers in advanced generations in maintaining subspecies integrity in house mice. ..
  25. Chapman V, Keitz B, Stephenson D, Mullins L, Moos M, Schachner M. Linkage of a gene for neural cell adhesion molecule, L1 (CamL1) to the Rsvp region of the mouse X chromosome. Genomics. 1990;8:113-8 pubmed
    ..The X chromosome linkage and the relative position on the X chromosome coincident with the genes Rsvp/G6pd/Cf-8 were defined in backcross matings involving M. spretus and M. musculus. ..
  26. Shastry B, Hejtmancik J, Plager D, Hartzer M, Trese M. Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. Genomics. 1995;27:341-4 pubmed
    ..Additionally, a polymorphic missense mutation (H127R) was detected in a severely affected patient. ..
  27. Carrel L, Cottle A, Goglin K, Willard H. A first-generation X-inactivation profile of the human X chromosome. Proc Natl Acad Sci U S A. 1999;96:14440-4 pubmed
    ..A complete X-inactivation profile will provide information relevant to clinical genetics and genetic counseling and should yield insight into the genomic and epigenetic organization of the X chromosome. ..
  28. Dumont B, White M, Steffy B, Wiltshire T, Payseur B. Extensive recombination rate variation in the house mouse species complex inferred from genetic linkage maps. Genome Res. 2011;21:114-25 pubmed publisher
    ..musculus. Our findings reveal considerable variation in the megabase-scale recombination landscape among recently diverged taxa and underscore the continued importance of genetic linkage maps in the post-genome era. ..
  29. Sprinkle T, Stone A, Venema R, Denslow N, Caldwell C, Ryan J. Assignment of the membrane-bound human aminopeptidase P gene (XPNPEP2) to chromosome Xq25. Genomics. 1998;50:114-6 pubmed
  30. Sossey Alaoui K, Hartung A, Guerrini R, Manchester D, Posar A, Puche Mira A, et al. Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet. 1998;7:1327-32 pubmed
  31. Kunkel M, Johnstone D, Thomas J, Salkoff L. Mutants of a temperature-sensitive two-P domain potassium channel. J Neurosci. 2000;20:7517-24 pubmed
    ..Our genetic and physiological data suggest that the movement defects observed in mutant twk-18 animals may be explained by an increased activity of the mutant TWK-18 channels. ..
  32. Meller V, Rattner B. The roX genes encode redundant male-specific lethal transcripts required for targeting of the MSL complex. EMBO J. 2002;21:1084-91 pubmed
    ..Therefore, the roX1 and roX2 genes produce redundant, male-specific lethal transcripts required for targeting the MSL complex. ..
  33. Sidhar S, Clark J, Gill S, Hamoudi R, Crew A, Gwilliam R, et al. The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. Hum Mol Genet. 1996;5:1333-8 pubmed
  34. Vervoort V, Beachem M, Edwards P, Ladd S, Miller K, de Mollerat X, et al. AGTR2 mutations in X-linked mental retardation. Science. 2002;296:2401-3 pubmed
    ..These findings indicate a role for AGTR2 in brain development and cognitive function. ..
  35. Alitalo T, Francis F, Kere J, Lehrach H, Schlessinger D, Willard H. A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes. Genomics. 1995;25:691-700 pubmed
    ..This work provides a starting point for further mapping and positional cloning of several X-linked disease genes. ..
  36. Fletcher F, Renshaw B, Hollingsworth T, Baum P, Lyman S, Jenkins N, et al. Genomic organization and chromosomal localization of mouse Eplg2, a gene encoding a binding protein for the receptor tyrosine kinase elk. Genomics. 1994;24:127-32 pubmed
    ..The first intron comprises approximately 8.5 kb of the entire 12-kb genomic sequence. Eplg2 was mapped to the mouse X chromosome by interspecific backcross analysis and is tightly linked to the androgen receptor (Ar) locus. ..
  37. Presgraves D. A fine-scale genetic analysis of hybrid incompatibilities in Drosophila. Genetics. 2003;163:955-72 pubmed
    ..Finally, I estimate that a total of approximately 191 hybrid-lethal incompatibilities separate D. melanogaster and D. simulans, indicating extensive functional divergence between these species' genomes. ..
  38. Lucas M, Ma Q, Cunningham D, Peters J, Cattanach B, Bard M, et al. Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast. Mol Genet Metab. 2003;80:227-33 pubmed
    ..Using this in vivo assay, we have demonstrated that two Str alleles function as hypomorphs, while three Bpa and one Str allele provide no complementation or rescue. ..
  39. Yang F, Babak T, Shendure J, Disteche C. Global survey of escape from X inactivation by RNA-sequencing in mouse. Genome Res. 2010;20:614-22 pubmed publisher
    ..Furthermore, this epigenetic mark is developmentally regulated for some mouse genes...
  40. Yu J, Medof M. Characterization of the murine PIG-A promoter region high constitutive PIG-A gene expression in brain. Biochem Biophys Res Commun. 1995;215:497-503 pubmed
    ..Our survey of PIG-A mRNA levels in vivo unexpectedly revealed that PIG-A expression levels are 2-4 fold higher in the brain than in other tissues. ..
  41. Park S, Kang Y, Sypula J, Choi J, Oh H, Park Y. An evolutionarily conserved domain of roX2 RNA is sufficient for induction of H4-Lys16 acetylation on the Drosophila X chromosome. Genetics. 2007;177:1429-37 pubmed
  42. Toups M, Hahn M. Retrogenes reveal the direction of sex-chromosome evolution in mosquitoes. Genetics. 2010;186:763-6 pubmed publisher
    ..We use retrotransposed gene duplicates to show an excess of movement off the An. gambiae X chromosome only after the split with Ae. aegypti, suggesting that their ancestor had homomorphic sex chromosomes...
  43. Cook R, Deal M, Deal J, Garton R, Brown C, Ward M, et al. A new resource for characterizing X-linked genes in Drosophila melanogaster: systematic coverage and subdivision of the X chromosome with nested, Y-linked duplications. Genetics. 2010;186:1095-109 pubmed publisher
    ..These duplication chromosomes will be valuable resources for rescuing and mapping X-linked mutations and identifying dosage-dependent modifiers of mutant phenotypes. ..
  44. Engels W, Preston C, Johnson Schlitz D. Long-range cis preference in DNA homology search over the length of a Drosophila chromosome. Science. 1994;263:1623-5 pubmed
    ..These results suggest that the search for homology between the broken ends and a matching template sequence occurs preferentially in the cis configuration. This cis advantage operates over more than 15 megabases of DNA. ..
  45. Schueler M, Higgins A, Nagaraja R, Tentler D, Dahl N, Gustashaw K, et al. Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation. Genomics. 2000;66:104-9 pubmed
    ..In addition, the distal contig spans deletions from chromosomes of three patients exhibiting either complete androgen insensitivity (CAI) or a contiguous gene syndrome that includes CAI, impaired vision, and mental retardation. ..
  46. Salz H, Erickson J. Sex determination in Drosophila: The view from the top. Fly (Austin). 2010;4:60-70 pubmed
    ..This review describes recent advances in our understanding of Sxl regulation and function, highlighting work that challenges some of the textbook views about this classical (often cited, yet poorly understood) binary switch gene. ..
  47. Oh S, Witek R, Bae S, Zheng D, Jung Y, Piscaglia A, et al. Bone marrow-derived hepatic oval cells differentiate into hepatocytes in 2-acetylaminofluorene/partial hepatectomy-induced liver regeneration. Gastroenterology. 2007;132:1077-87 pubmed
    ..The present study analyzed whether the bone marrow cells are a source of hepatic oval cells involved in rat liver regeneration induced by 2-acetylaminofluorene (2-AAF) and 70% partial hepatectomy (PHx)...
  48. Mullins L, Stephenson D, Grant S, Chapman V. Efficient linkage of 10 loci in the proximal region of the mouse X chromosome. Genomics. 1990;7:19-30 pubmed
    ..The possible significance of the Xlr loci is discussed with respect to other X-chromosome loci that regulate the immune response. ..
  49. Pillers D, Weleber R, Powell B, Hanna C, Magenis R, Buist N. Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. Am J Med Genet. 1990;36:23-8 pubmed
    ..Cytogenetic analysis shows an interstitial deletion in the short arm of the X-chromosome at Xp21. ..
  50. Chapman V, Keitz B, Bishop D. Genetic linkage of the erythroid-specific delta-aminolevulinate synthase gene (Alas2) to the distal region of the mouse X chromosome. Mamm Genome. 1994;5:741 pubmed
  51. Talbert P, LeCiel C, Henikoff S. Modification of the Drosophila heterochromatic mutation brownDominant by linkage alterations. Genetics. 1994;136:559-71 pubmed
    ..These results support the notion that heterochromatin formation at a genetic locus depends on its location within the nucleus. ..
  52. Shastry B, Hejtmancik J, Trese M. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum Mutat. 1997;9:396-401 pubmed
    ..It also demonstrates that it may be beneficial for clinical diagnosis to screen for mutations in the Norrie disease gene in sporadic FEVR cases. ..
  53. Kovacevic M, Schaeffer S. Molecular population genetics of X-linked genes in Drosophila pseudoobscura. Genetics. 2000;156:155-72 pubmed
    ..The reduced heterogeneity in esterase 5 is due either to its location near one of the Sex-ratio inversion breakpoints or that it is closely linked to a gene or genes responsible for the Sex-ratio meiotic drive system...
  54. Tsuchiya K, Willard H. Chromosomal domains and escape from X inactivation: comparative X inactivation analysis in mouse and human. Mamm Genome. 2000;11:849-54 pubmed
    ..Possible mechanisms responsible for the differing inactivation status between genes in the escape domain in human Xp11. 21-p11.22 and the corresponding mouse region are discussed. ..
  55. Zonana J, Elder M, Schneider L, Orlow S, Moss C, Golabi M, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet. 2000;67:1555-62 pubmed
  56. Yang Z, Peachey N, Moshfeghi D, Thirumalaichary S, Chorich L, Shugart Y, et al. Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet. 2002;11:605-11 pubmed
    ..Consistent with expression of RPGR in rods and cones, our results show that mutations in RPGR, in addition to X-linked RP, can also cause cone-specific degeneration. ..
  57. Fletcher B, Dragstedt C, Notterpek L, Nolan G. Functional cloning of SPIN-2, a nuclear anti-apoptotic protein with roles in cell cycle progression. Leukemia. 2002;16:1507-18 pubmed
    ..These studies suggest that SPIN-2 is a novel nuclear protein that functions to regulate cell cycle progression and this activity is related to the inhibition of apoptosis following the removal of essential growth factors. ..
  58. Rattner B, Meller V. Drosophila male-specific lethal 2 protein controls sex-specific expression of the roX genes. Genetics. 2004;166:1825-32 pubmed
    ..We propose that this mechanism maintains a stable MSL/roX ratio that is favorable for localization of the complex to the X chromosome. ..
  59. Eun S, Lea K, Overstreet E, Stevens S, Lee J, Fischer J. Identification of genes that interact with Drosophila liquid facets. Genetics. 2007;175:1163-74 pubmed
    ..We describe the mutant alleles and mutant phenotypes of Rala and aux. We discuss the relevance of all of these genetic interactions to the function of Liquid facets in Notch signaling. ..
  60. Drysdale R, Warmke J, Kreber R, Ganetzky B. Molecular characterization of eag: a gene affecting potassium channels in Drosophila melanogaster. Genetics. 1991;127:497-505 pubmed
    ..Two different eag mutations separated by over 20 kb interrupt the same transcript identifying it as the likely eag message. cDNAs representing a portion of this transcript have been isolated.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  61. Fletcher F, Huebner K, Shaffer L, Fairweather N, Monaco A, Muller U, et al. Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase elk to a 200-kilobasepair region in human chromosome Xq12. Genomics. 1995;25:334-5 pubmed
  62. Brown C, Willard H. The human X-inactivation centre is not required for maintenance of X-chromosome inactivation. Nature. 1994;368:154-6 pubmed
    ..Genes subject to X inactivation remain transcriptionally silent despite the loss of the XIC, demonstrating that the presence of the XIC is not required for the maintenance of X inactivation in somatic cells. ..
  63. Contreras M, Mosser J, Mandel J, Aubourg P, Singh I. The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein. FEBS Lett. 1994;344:211-5 pubmed
    ..Moreover, no signal for ALD-P was detected in peroxisomes from X-ALD patients with deletion of the ALD gene. ..
  64. Pai G, Hane B, Joseph M, Nelson R, Hammond L, Arena J, et al. A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. J Med Genet. 1997;34:529-34 pubmed
  65. Miller A, Willard H. Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation. Proc Natl Acad Sci U S A. 1998;95:8709-14 pubmed
    ..Genes located both distal and proximal to this cluster are subject to inactivation, thereby defining a unique multigene domain on the proximal short arm that is transcriptionally active on the inactive X chromosome. ..
  66. Monreal A, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet. 1998;63:380-9 pubmed
    ..Direct diagnosis will allow carrier detection in families with a single affected male and will assist in distinguishing XLHED from the rarer, clinically indistinguishable, autosomal recessive form of the disorder. ..
  67. Smith B, Sengupta T, Singh I. Intraperoxisomal localization of very-long-chain fatty acyl-CoA synthetase: implication in X-adrenoleukodystrophy. Exp Cell Res. 2000;254:309-20 pubmed
  68. Hahn K, Salomons G, Tackels Horne D, Wood T, Taylor H, Schroer R, et al. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet. 2002;70:1349-56 pubmed
    ..The ability to measure elevated creatine in urine makes it possible to diagnose SLC6A8 deficiency in male patients with mental retardation of unknown etiology. ..
  69. Gong W, McKim K, Hawley R. All paired up with no place to go: pairing, synapsis, and DSB formation in a balancer heterozygote. PLoS Genet. 2005;1:e67 pubmed
  70. Maatouk D, Kellam L, Mann M, Lei H, Li E, Bartolomei M, et al. DNA methylation is a primary mechanism for silencing postmigratory primordial germ cell genes in both germ cell and somatic cell lineages. Development. 2006;133:3411-8 pubmed
    ..This is the first example of ectopic gene activation in Dnmt1 mutant mice and suggests that dynamic changes in DNA methylation regulate tissue-specific gene expression of a set of primordial germ cell-specific genes. ..
  71. Chandra R, Federici S, Hasko G, Deitch E, Spolarics Z. Female X-chromosome mosaicism for gp91phox expression diversifies leukocyte responses during endotoxemia. Crit Care Med. 2010;38:2003-10 pubmed publisher
    ..Mosaicism for X-linked polymorphisms may have clinical significance and needs consideration in genetic association or gender-related clinical studies. ..
  72. Disteche C. Dosage compensation of the sex chromosomes. Annu Rev Genet. 2012;46:537-60 pubmed publisher
    ..Some genes escape dosage compensation, potentially resulting in sex-specific differences in gene expression. This review focuses on dosage compensation in mammals, with comparisons to fruit flies, nematodes, and birds. ..
  73. Kalcheva I, Matsuda Y, Plass C, Chapman V. Isolation and characterization of a pseudoautosomal region-specific genetic marker in C57BL/6 mice using genomic representational difference analysis. Proc Natl Acad Sci U S A. 1995;92:12352-6 pubmed
    ..Preliminary analyses of recombination between the distal X chromosome gene amelogenin (Amg) and the PAR loci for either TelXY or sex chromosome association (Sxa) suggest that the locus DXYRp1 maps to the distal portion of the PAR. ..
  74. Carrel L, Hunt P, Willard H. Tissue and lineage-specific variation in inactive X chromosome expression of the murine Smcx gene. Hum Mol Genet. 1996;5:1361-6 pubmed
    ..These data suggest that the chromosomal basis of X inactivation differs among tissues, perhaps reflecting differences in the timing or regulation of inactivation in these cell lineages. ..
  75. Hendrich B, Plenge R, Willard H. Identification and characterization of the human XIST gene promoter: implications for models of X chromosome inactivation. Nucleic Acids Res. 1997;25:2661-71 pubmed
  76. Disteche C, Dinulos M, Bassi M, Elliott R, Rugarli E. Mapping of the murine tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes. Mamm Genome. 1998;9:1062-4 pubmed
  77. Meller V. Dosage compensation: making 1X equal 2X. Trends Cell Biol. 2000;10:54-9 pubmed
    ..Each organism uses a largely non-overlapping set of molecules to achieve the same outcome: 1X = 2X. ..
  78. Lingenfelter P, Delbridge M, Thomas S, Hoekstra H, Mitchell M, Graves J, et al. Expression and conservation of processed copies of the RBMX gene. Mamm Genome. 2001;12:538-45 pubmed
    ..This autosomal, testis-specific copy of RBMX could potentially compensate for RBMX that is presumably inactivated in male germ cells, in a manner analogous to autosomal retroposed copies of other X-linked genes. ..
  79. Wang Q, Chen Q, Zhao K, Wang L, Traboulsi E. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet. 2001;22:133-54 pubmed
    ..These exciting molecular discoveries have defined the genetic pathways underlying the pathogenesis of retinitis pigmentosa, and have raised the hope of genetic testing for RP and the development of new avenues for therapy. ..
  80. Parisi M, Kapur R, Neilson I, Hofstra R, Holloway L, Michaelis R, et al. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?. Am J Med Genet. 2002;108:51-6 pubmed
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