x linked genes


Summary: Genes that are located on the X CHROMOSOME.

Top Publications

  1. Vibranovski M, Lopes H, Karr T, Long M. Stage-specific expression profiling of Drosophila spermatogenesis suggests that meiotic sex chromosome inactivation drives genomic relocation of testis-expressed genes. PLoS Genet. 2009;5:e1000731 pubmed publisher
    ..These results suggest MSCI as a general mechanism affecting the evolution of some testis-expressed genes. ..
  2. Dibbens L, Tarpey P, Hynes K, Bayly M, Scheffer I, Smith R, et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet. 2008;40:776-81 pubmed publisher
    ..PCDH19 is expressed in developing brains of human and mouse and is the first member of the cadherin superfamily to be directly implicated in epilepsy or mental retardation...
  3. Patrat C, Okamoto I, Diabangouaya P, Vialon V, Le Baccon P, Chow J, et al. Dynamic changes in paternal X-chromosome activity during imprinted X-chromosome inactivation in mice. Proc Natl Acad Sci U S A. 2009;106:5198-203 pubmed publisher
    ..These results reveal that imprinted X inactivation in mice is far less concerted than previously thought and highlight the epigenetic diversity underlying the dosage compensation process during early mammalian development. ..
  4. Blauwkamp T, Csankovszki G. Two classes of dosage compensation complex binding elements along Caenorhabditis elegans X chromosomes. Mol Cell Biol. 2009;29:2023-31 pubmed publisher
    ..These results suggest that two distinct classes of DCC-binding elements facilitate recruitment and spreading of the DCC along the X chromosome. ..
  5. Shoubridge C, Fullston T, Gecz J. ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat. 2010;31:889-900 pubmed publisher
  6. Kaiser V, Bergero R, Charlesworth D. Slcyt, a newly identified sex-linked gene, has recently moved onto the X chromosome in Silene latifolia (Caryophyllaceae). Mol Biol Evol. 2009;26:2343-51 pubmed publisher
    ..diclinis and S. latifolia/S. dioica. Diversity at Slcyt is extremely low (pi(syn) = 0.16%), and we find an excess of high frequency-derived variants and a negative Tajima's D, suggesting that the translocation was driven by selection. ..
  7. Bottema R, Kerkhof M, Reijmerink N, Koppelman G, Thijs C, Stelma F, et al. X-chromosome Forkhead Box P3 polymorphisms associate with atopy in girls in three Dutch birth cohorts. Allergy. 2010;65:865-74 pubmed publisher
    ..In addition, an association with remission of sensitisation to food allergens existed in boys only. ..
  8. Tosch V, Vasli N, Kretz C, Nicot A, Gasnier C, Dondaine N, et al. Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations. Neuromuscul Disord. 2010;20:375-81 pubmed publisher
    ..Patients with centronuclear myopathy and no molecular diagnosis should be investigated for MTM1 defects at the cDNA and protein level. ..
  9. Yasukochi Y, Maruyama O, Mahajan M, Padden C, Euskirchen G, Schulz V, et al. X chromosome-wide analyses of genomic DNA methylation states and gene expression in male and female neutrophils. Proc Natl Acad Sci U S A. 2010;107:3704-9 pubmed publisher
    ..Thus, in addition to DNA methylation, other factors are involved in the fine tuning of gene dosage compensation in neutrophils. ..

More Information


  1. Zhang L, Martin E, Morris R, Li Y. Association test for X-linked QTL in family-based designs. Am J Hum Genet. 2009;84:431-44 pubmed publisher
    ..By treating age at onset of Parkinson disease as a quantitative trait, we illustrate our method, using MAO polymorphisms in 780 families. ..
  2. Filatov D. A selective sweep in or near the Silene latifolia X-linked gene SlssX. Genet Res (Camb). 2008;90:85-95 pubmed publisher
    ..As the sweep has not affected the closely linked DD44X gene, the selective advantage of the mutation that has driven the sweep in the SlssX gene might have been less than 1%. ..
  3. Hill H, Augustine N, Pryor R, Reed G, Bagnato J, Tebo A, et al. Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting. J Mol Diagn. 2010;12:368-76 pubmed publisher
    ..High-resolution melting can provide timely diagnosis at low cost for effective clinical management of rare, genetic primary immunodeficiency disorders. ..
  4. Tereshchenko I, Chen Y, McDaniel L, Schultz R, Tischfield J, Shao C. Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice. DNA Repair (Amst). 2010;9:551-7 pubmed publisher
    ..Thus, both large scale and small scale genetic alterations are elevated when BLM is reduced, which may contribute to loss of function of tumor suppressor genes and subsequent tumorigenesis. ..
  5. Kang T, Noh K, Kim J, Bae H, Lin K, Monie A, et al. Ectopic expression of X-linked lymphocyte-regulated protein pM1 renders tumor cells resistant to antitumor immunity. Cancer Res. 2010;70:3062-70 pubmed publisher
    ..Thus, our data indicate that ectopic expression of XLR and its homologues in tumor cells represents a potentially important mechanism for tumor immune evasion and serves as a promising molecular target for cancer immunotherapy. ..
  6. Harmsen M, Azzarello Burri S, García González M, Gillessen Kaesbach G, Meinecke P, Müller D, et al. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet. 2009;17:1207-15 pubmed publisher
    ..We conclude that the PORCN mutation detection rate is high in individuals with a clear-cut FDH phenotype and somatic mosaicism can be present in a significant proportion of patients with mild or classic FDH...
  7. Cahan P, Li Y, Izumi M, Graubert T. The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cells. Nat Genet. 2009;41:430-7 pubmed publisher
  8. 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. ..
  9. Brewer M, Changi F, Antonellis A, Fischbeck K, Polly P, Nicholson G, et al. Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region. Neurogenetics. 2008;9:191-5 pubmed publisher
    ..The ancestral recombination observed in the American family refines the CMTX3 interval to a 2.5 Mb region between DXS984 and DXS8106. In this region, 11 out of the 15 annotated genes have been excluded for pathogenic mutations. ..
  10. Pitteloud N, Durrani S, Raivio T, Sykiotis G. Complex genetics in idiopathic hypogonadotropic hypogonadism. Front Horm Res. 2010;39:142-53 pubmed publisher
    ..Future investigations of IHH should characterize the extent of the involvement of multiple genes in disease pathogenesis, and elucidate the contributions of epigenetic factors. ..
  11. Heyer E, Segurel L. Looking for signatures of sex-specific demography and local adaptation on the X chromosome. Genome Biol. 2010;11:203 pubmed publisher
    ..A population study comparing X-linked variation with that of the autosomes reveals that social organization has a clear impact on X chromosome genetic diversity and that the X chromosome shows a signature of local adaptation. ..
  12. Deng X, Nguyen D, Hansen R, Van Dyke D, Gartler S, Disteche C. Dosage regulation of the active X chromosome in human triploid cells. PLoS Genet. 2009;5:e1000751 pubmed publisher
    ..Indeed, we found that there was a range of individual X-linked gene expression in relation to ploidy and that a small subset ( approximately 7%) of genes had expression levels apparently proportional to the number of autosomal sets. ..
  13. Araujo L, Cendoroglo M, Gigek C, Chen E, Smith M. Association of lipase lipoprotein polymorphisms with high-density lipoprotein and triglycerides in elderly men. Genet Mol Res. 2010;9:86-96 pubmed
    ..29 vs 3.26, respectively). The X allele and H-X haplotype were associated with lower triglyceride/HDL ratios in these elderly men, independent of the history of cardiovascular events. ..
  14. Ishibashi T, Li A, Eirín López J, Zhao M, Missiaen K, Abbott D, et al. H2A.Bbd: an X-chromosome-encoded histone involved in mammalian spermiogenesis. Nucleic Acids Res. 2010;38:1780-9 pubmed publisher
    ..This common rate of evolution provides further support for the functional and structural involvement of this protein in male gametogenesis in mammals. ..
  15. Lim E, Lee H, Sim J, Yang W, Shin K. Genetic polymorphism and haplotype analysis of 4 tightly linked X-STR duos in Koreans. Croat Med J. 2009;50:305-12 pubmed
  16. Bakalov V, Cheng C, Zhou J, Bondy C. X-chromosome gene dosage and the risk of diabetes in Turner syndrome. J Clin Endocrinol Metab. 2009;94:3289-96 pubmed publisher
    ..Turner syndrome (TS) is caused by the absence or fragmentation of the second sex chromosome. An increased risk of diabetes mellitus (DM) has consistently been noted, but the specific phenotype and genetic etiology of this trait are unknown...
  17. Betancourt A, Welch J, Charlesworth B. Reduced effectiveness of selection caused by a lack of recombination. Curr Biol. 2009;19:655-60 pubmed publisher
  18. Nagy N, Matskova L, Kis L, Hellman U, Klein G, Klein E. The proapoptotic function of SAP provides a clue to the clinical picture of X-linked lymphoproliferative disease. Proc Natl Acad Sci U S A. 2009;106:11966-71 pubmed publisher
    ..We have shown that the anti-apoptotic protein VCP (valosin-containing protein) binds to SAP, suggesting that it could be instrumental in the enhanced apoptotic response modulated by SAP. ..
  19. Xiong Y, Chen X, Chen Z, Wang X, Shi S, Wang X, et al. RNA sequencing shows no dosage compensation of the active X-chromosome. Nat Genet. 2010;42:1043-7 pubmed publisher
    ..Together, our findings reject Ohno’s hypothesis, necessitating a major revision of the current model of dosage compensation in the evolution of sex chromosomes. ..
  20. Coccia M, Brooks S, Webb T, Christodoulou K, Wozniak I, Murday V, et al. X-linked cataract and Nance-Horan syndrome are allelic disorders. Hum Mol Genet. 2009;18:2643-55 pubmed publisher
    ..Our data highlight the importance of copy number variation and non-recurrent re-arrangements leading to different severity of disease and describe the potential mechanisms involved. ..
  21. Metta M, Schlotterer C. Non-random genomic integration - an intrinsic property of retrogenes in Drosophila?. BMC Evol Biol. 2010;10:114 pubmed publisher
    ..Rather, we propose that the movement away from the X-chromosome represents a general property of retroposition in Drosophila. ..
  22. Maekawa K, Yamada M, Okura Y, Sato Y, Yamada Y, Kawamura N, et al. X-linked agammaglobulinemia in a 10-year-old boy with a novel non-invariant splice-site mutation in Btk gene. Blood Cells Mol Dis. 2010;44:300-4 pubmed publisher
    ..Furthermore, significant levels of serum immunoglobulins in XLA patients do not necessarily mean less severe phenotype. ..
  23. Dementyeva E, Shevchenko A, Anopriyenko O, Mazurok N, Elisaphenko E, Nesterova T, et al. Difference between random and imprinted X inactivation in common voles. Chromosoma. 2010;119:541-52 pubmed publisher
    ..The data provide new evidence that imprinted X-inactivation is less complete and/or stable than the random form and DNA methylation contributes less to its maintenance. ..
  24. Gladstein N, McKeon M, Horabin J. Requirement of male-specific dosage compensation in Drosophila females--implications of early X chromosome gene expression. PLoS Genet. 2010;6:e1001041 pubmed publisher
    ..Our data suggest that before the female state is set, the ground state is male and female X chromosome expression is elevated. Females thus utilize the male dosage compensation process to amplify the signal which determines their fate. ..
  25. Hammer M, Woerner A, Mendez F, Watkins J, Cox M, Wall J. The ratio of human X chromosome to autosome diversity is positively correlated with genetic distance from genes. Nat Genet. 2010;42:830-1 pubmed publisher
    ..This pattern may be explained by stronger locally acting selection on X-linked genes compared with autosomal genes, combined with larger effective population sizes for females than for males. ..
  26. Ropers H. Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet. 2010;11:161-87 pubmed publisher
    ..As shown for Fra(X) syndrome, this renewed focus on autosomal gene defects will pave the way for molecular diagnosis and prevention, shed more light on the pathogenesis of ID, and reveal new opportunities for therapy. ..
  27. Zheng K, Yang F, Wang P. Regulation of male fertility by X-linked genes. J Androl. 2010;31:79-85 pubmed publisher
    ..The genetic studies of X-linked, germ cell-specific genes in mice have laid a foundation for mutational analysis of their human orthologues in infertile men. ..
  28. Hill Burns E, Clark A. X-linked variation in immune response in Drosophila melanogaster. Genetics. 2009;183:1477-91 pubmed publisher
    ..Many of the associations act in a sex-specific or sexually antagonistic manner, supporting the theory that with the selective pressures facing genes on the X chromosome, sexually antagonistic variation may be more easily maintained. ..
  29. Poorkaj P, Raskind W, Leverenz J, Matsushita M, Zabetian C, Samii A, et al. A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. Mov Disord. 2010;25:1409-17 pubmed publisher
    ..In conclusion, we have identified a unique X-linked parkinsonian syndrome with variable spasticity and four-repeat tau pathology, and defined a novel candidate gene locus spanning approximately 28 Mb from Xp11.2-Xq13.3. ..
  30. Iemmola F, Camperio Ciani A. New evidence of genetic factors influencing sexual orientation in men: female fecundity increase in the maternal line. Arch Sex Behav. 2009;38:393-9 pubmed publisher
    ..No evidence of increased paternal fecundity was found; thus, our data confirmed a sexually antagonistic inheritance partly linked to the X-chromosome that promotes fecundity in females and a homosexual sexual orientation in males. ..
  31. Liu Y, Wang L, Zheng P. X-linked tumor suppressors: perplexing inheritance, a unique therapeutic opportunity. Trends Genet. 2010;26:260-5 pubmed publisher
  32. Hirano M, DiMauro S. VMA21 deficiency: a case of myocyte indigestion. Cell. 2009;137:213-5 pubmed publisher
    ..In this issue, Ramachandran et al. (2009) report that mutations in the gene encoding the human homolog VMA21 cause the disease X-linked myopathy with excessive autophagy through an unexpected mechanism. ..
  33. Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, d Adamo P, et al. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet. 2010;86:639-49 pubmed publisher
  34. Kato M, Koyama N, Ohta M, Miura K, Hayasaka K. Frameshift mutations of the ARX gene in familial Ohtahara syndrome. Epilepsia. 2010;51:1679-84 pubmed publisher
    ..The etiology of Ohtahara syndrome is heterogeneous; however, the molecular analysis of ARX should be considered in sporadic or familial male patients with Ohtahara syndrome. ..
  35. Rogaev E, Grigorenko A, Faskhutdinova G, Kittler E, Moliaka Y. Genotype analysis identifies the cause of the "royal disease". Science. 2009;326:817 pubmed publisher
    ..Thus, the royal disease is the severe form of hemophilia, also known as hemophilia B or Christmas disease. ..
  36. Sun X, Birchler J. Interaction study of the male specific lethal (MSL) complex and trans-acting dosage effects in metafemales of Drosophila melanogaster. Cytogenet Genome Res. 2009;124:298-311 pubmed publisher
    ..There is a lower autosomal level of histone acetylation compared to the normal metafemales, suggesting a nullifying effect on the negative dosage effect of the X chromosome as previously hypothesized to occur in normal males. ..
  37. Jones G, Martin M. Language dominance, handedness and sex: recessive X-linkage theory and test. Cortex. 2010;46:781-6 pubmed publisher
  38. Prince E, Kirkland D, Demuth J. Hyperexpression of the X chromosome in both sexes results in extensive female bias of X-linked genes in the flour beetle. Genome Biol Evol. 2010;2:336-46 pubmed publisher
  39. Noor A, Whibley A, Marshall C, Gianakopoulos P, Piton A, Carson A, et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med. 2010;2:49ra68 pubmed publisher
    ..Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability. ..
  40. Mahadevaiah S, Royo H, Vandeberg J, McCarrey J, Mackay S, Turner J. Key features of the X inactivation process are conserved between marsupials and eutherians. Curr Biol. 2009;19:1478-84 pubmed publisher
    ..We conclude that aspects of the XCI process are more highly conserved in therian mammals than previously thought...
  41. Nora E, Heard E. X chromosome inactivation: when dosage counts. Cell. 2009;139:865-7 pubmed publisher
    ..2009) show that Rnf12/RLIM, encoded by the X-linked gene Rnf12, induces X chromosome inactivation only when present above a certain threshold, a condition fulfilled when at least two Xs are active. ..
  42. Yin S, Wang P, Deng W, Zheng H, Hu L, Hurst L, et al. Dosage compensation on the active X chromosome minimizes transcriptional noise of X-linked genes in mammals. Genome Biol. 2009;10:R74 pubmed publisher
    ..Given the coupling between expression level and noise on the X-chromosome, we suggest that part of the selective advantage of dosage compensation is noise abatement of X-linked genes. ..
  43. Almstedt M, Blagitko Dorfs N, Duque Afonso J, Karbach J, Pfeifer D, Jager E, et al. The DNA demethylating agent 5-aza-2'-deoxycytidine induces expression of NY-ESO-1 and other cancer/testis antigens in myeloid leukemia cells. Leuk Res. 2010;34:899-905 pubmed publisher
    ..The susceptibility of DAC-treated AML cell lines to antigen-specific T-cell recognition has clear implications for future clinical trials combining DAC and specific immunotherapy in AML. ..
  44. Tanasijevic B, Dai B, Ezashi T, Livingston K, Roberts R, Rasmussen T. Progressive accumulation of epigenetic heterogeneity during human ES cell culture. Epigenetics. 2009;4:330-8 pubmed
    ..Assays of epigenetic integrity are warranted as quality control measures for the culture of hESCs. ..
  45. Albert M, Bittner T, Nonoyama S, Notarangelo L, Burns S, Imai K, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood. 2010;115:3231-8 pubmed publisher
    ..These observations will allow better decision making when considering treatment options for individual patients with XLT. ..
  46. Raymond F, Whibley A, Stratton M, Gecz J. Lessons learnt from large-scale exon re-sequencing of the X chromosome. Hum Mol Genet. 2009;18:R60-4 pubmed publisher
    ..The importance of the quality of the starting material both clinically and molecularly and the number of sequence variants both rare and common that any one individual has across their coding sequence is discussed. ..
  47. Hanajima R, Terao Y, Nakatani Enomoto S, Hamada M, Yugeta A, Matsumoto H, et al. Postural tremor in X-linked spinal and bulbar muscular atrophy. Mov Disord. 2009;24:2063-9 pubmed publisher
    ..Subclinical sensory disturbance or a decrease of motor unit numbers might be candidates for such peripheral factors contributing to tremor genesis in SBMA...
  48. Guo X, Su B, Zhou Z, Sha J. Rapid evolution of mammalian X-linked testis microRNAs. BMC Genomics. 2009;10:97 pubmed publisher
    ..The rapid evolution of X-linked testis miRNAs implies possible important male reproductive functions and may contribute to speciation in mammals. ..
  49. Lopes A, Burgoyne P, Ojarikre A, Bauer J, Sargent C, Amorim A, et al. Transcriptional changes in response to X chromosome dosage in the mouse: implications for X inactivation and the molecular basis of Turner Syndrome. BMC Genomics. 2010;11:82 pubmed publisher
  50. Laverty C, Lucci J, Akhtar A. The MSL complex: X chromosome and beyond. Curr Opin Genet Dev. 2010;20:171-8 pubmed publisher
    ..A comparison of Drosophila and mammalian systems reveals intriguing parallels in MOF behavior, and highlights the multidisciplinary nature of this enzyme. ..
  51. Yan B, Li D, Gou K. Homologous illegitimate random integration of foreign DNA into the X chromosome of a transgenic mouse line. BMC Mol Biol. 2010;11:58 pubmed publisher
    ..05). Taken together, the results indicated that the foreign fad2 behaved like an X-linked gene and that foreign DNA molecules were inserted into the eukaryotic genome through a homologous illegitimate random integration. ..
  52. Li J, Liu Y, Dong D, Zhang Z. Evolution of an X-linked primate-specific micro RNA cluster. Mol Biol Evol. 2010;27:671-83 pubmed publisher
    ..Collectively, we argue these miRNAs might play an important role in epididymal morphogenesis and sperm maturation and in establishing primate-specific epididymal characteristics. ..