sex chromatin

Summary

Summary: In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)

Top Publications

  1. Chadwick B, Willard H. Chromatin of the Barr body: histone and non-histone proteins associated with or excluded from the inactive X chromosome. Hum Mol Genet. 2003;12:2167-78 pubmed
  2. Brown C, Hendrich B, Rupert J, Lafreniere R, Xing Y, Lawrence J, et al. The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell. 1992;71:527-42 pubmed
    ..Consistent with this, fluorescence in situ hybridization experiments demonstrate localization of XIST RNA within the nucleus to a position indistinguishable from the X inactivation-associated Barr body...
  3. Sahara K, Marec F, Eickhoff U, Traut W. Moth sex chromatin probed by comparative genomic hybridization (CGH). Genome. 2003;46:339-42 pubmed
    ..mori appeared to lack the latter component. Our results show that CGH can be applied to obtain a first estimate of the sequence composition of sex chromosomes in species from which otherwise little is known on the molecular level...
  4. Akerfelt M, Vihervaara A, Laiho A, Conter A, Christians E, Sistonen L, et al. Heat shock transcription factor 1 localizes to sex chromatin during meiotic repression. J Biol Chem. 2010;285:34469-76 pubmed publisher
    ..Given that the sex chromatin mostly is repressed during and after meiosis, it is remarkable that HSF1 directly regulates the transcription ..
  5. Fuková I, Traut W, Vítková M, Nguyen P, Kubickova S, Marec F. Probing the W chromosome of the codling moth, Cydia pomonella, with sequences from microdissected sex chromatin. Chromosoma. 2007;116:135-45 pubmed
    ..moth, Cydia pomonella, like that of most Lepidoptera species, is heterochromatic and forms a female-specific sex chromatin body in somatic cells...
  6. Fernandez Capetillo O, Mahadevaiah S, Celeste A, Romanienko P, Camerini Otero R, Bonner W, et al. H2AX is required for chromatin remodeling and inactivation of sex chromosomes in male mouse meiosis. Dev Cell. 2003;4:497-508 pubmed
    ..2 and XMR, do not preferentially localize with the sex chromosomes in the absence of H2AX. Thus, H2AX is required for the chromatin remodeling and associated silencing in male meiosis...
  7. McKay L, Wrigley J, Graves J. Evolution of mammalian X-chromosome inactivation: sex chromatin in monotremes and marsupials. Aust J Biol Sci. 1987;40:397-404 pubmed
    ..No sex difference was observed in any monotreme tissue. These data suggest that stabilization of X-chromosome inactivation by heterochromatinization is tissue-specific in marsupials and absent in monotremes...
  8. de Saint Basile G, Lagelouse R, Lambert N, Schwarz K, Le Mareck B, Odent S, et al. Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. J Pediatr. 1996;129:56-62 pubmed
    ..This study shows that XLT may be caused by mutations of the WASP, thus representing an allelic variant of WAS. ..
  9. Mondal S, Guha D, Banerjee D, Sinha S. Study of primary amenorrhoea with special reference to cytogenetic evaluation. Indian J Pathol Microbiol. 2002;45:155-9 pubmed
    ..profile, X-ray, laparoscopy/pneumography, hormone profile, USG, Gonadal Biopsy and Cytogenetic study including Sex Chromatin (Barr body) and Karyotyping...

More Information

Publications70

  1. Oates R. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl. 2003;24:49-50 pubmed
  2. Chen F, Hou B. [Application of the Barr body case in teaching practice of genetics]. Yi Chuan. 2012;34:503-8 pubmed
    ..Good teaching results have been achieved. ..
  3. Eicher E, Coleman D. Influence of gene duplication and X-inactivation on mouse mitochondrial malic enzyme activity and electrophoretic patterns. Genetics. 1977;85:647-58 pubmed
    ..We conclude that the expression of an autosomal locus attached to X-chromatin depends upon whether the translocation is in a balanced or unbalanced state. ..
  4. Miller F. 'Your true and proper gender': the Barr body as a good enough science of sex. Stud Hist Philos Biol Biomed Sci. 2006;37:459-83 pubmed
    ..Though provisional, the scientific status of the sex chromatin within this system of knowledge was good enough to support a flourishing research enterprise in the clinical ..
  5. Cocquet J, Ellis P, Yamauchi Y, Mahadevaiah S, Affara N, Ward M, et al. The multicopy gene Sly represses the sex chromosomes in the male mouse germline after meiosis. PLoS Biol. 2009;7:e1000244 pubmed publisher
    ..that the male-specific region (MSYq) encodes information required for sperm differentiation and postmeiotic sex chromatin repression (PSCR)...
  6. Baarends W, Wassenaar E, van der Laan R, Hoogerbrugge J, Sleddens Linkels E, Hoeijmakers J, et al. Silencing of unpaired chromatin and histone H2A ubiquitination in mammalian meiosis. Mol Cell Biol. 2005;25:1041-53 pubmed
    ..This silencing in mammalian meiotic prophase cells concerns unpaired chromatin regions and resembles a phenomenon described for the fungus Neurospora crassa and named meiotic silencing by unpaired DNA. ..
  7. Aleem M, Choudhari J, Padwal V, Balasinor N, Parte P, Gill Sharma M. Hyperprolactinemia affects spermiogenesis in adult male rats. J Endocrinol Invest. 2005;28:39-48 pubmed
  8. Evenson D, Kasperson K, Wixon R. Analysis of sperm DNA fragmentation using flow cytometry and other techniques. Soc Reprod Fertil Suppl. 2007;65:93-113 pubmed
    ..At this time, only the SCSA has been deemed sufficiently rigorous in methodology and established clinical thresholds for utility in the human infertility clinic...
  9. Bellani M, Romanienko P, Cairatti D, Camerini Otero R. SPO11 is required for sex-body formation, and Spo11 heterozygosity rescues the prophase arrest of Atm-/- spermatocytes. J Cell Sci. 2005;118:3233-45 pubmed
    ..The co-localization of ATR, phosphorylated H2AX and the sex chromatin observed in the Atm-/- Spo11+/- mutant, along with ATR transcription kinetics during the first wave of ..
  10. Mizuno K, Giese K. Towards a molecular understanding of sex differences in memory formation. Trends Neurosci. 2010;33:285-91 pubmed publisher
    ..This review discusses emerging evidence in the field and how these findings are providing a first step towards a molecular understanding of how sex differences impact on memory formation both in health and disease...
  11. Siegeler K, Wistuba J, Damm O, von Engelhardt N, Sachser N, Kaiser S. Early social instability affects plasma testosterone during adolescence but does not alter reproductive capacity or measures of stress later in life. Physiol Behav. 2013;120:143-9 pubmed publisher
    ..Thus, early social instability affects plasma testosterone development during adolescence in a significant way but does not alter reproductive capacity or measures of stress later in life. ..
  12. Comptour A, Moretti C, Serrentino M, Auer J, Ialy Radio C, Ward M, et al. SSTY proteins co-localize with the post-meiotic sex chromatin and interact with regulators of its expression. FEBS J. 2014;281:1571-84 pubmed publisher
    ..Post-meiotic XY gene expression is regulated by active epigenetic marks, which are de novo incorporated in the sex chromatin of spermatids, and by repressive epigenetic marks inherited during meiosis; alterations in this process lead ..
  13. Faye O, Azza S, Adil B, Doudou D, Berthé M, Ndiaye M, et al. [Diagnostic interest of Barr chromatin test in sex determination: about one case of male pseudohermaphrodism]. Dakar Med. 2007;52:204-8 pubmed
    ..The aim of this study was to show the Barr chromatin test interest in the sexual ambiguity diagnosis orientation in some cases of these sexual ambiguities...
  14. Carone D, Lawrence J. Heterochromatin instability in cancer: from the Barr body to satellites and the nuclear periphery. Semin Cancer Biol. 2013;23:99-108 pubmed publisher
  15. Aleem M, Padwal V, Choudhari J, Balasinor N, Parte P, Gill Sharma M. Cyproterone acetate affects protamine gene expression in the testis of adult male rat. Contraception. 2005;71:379-91 pubmed
    ..It is likely that indirect effects of T involve its aromatization in spermatids...
  16. Cocquet J, Ellis P, Mahadevaiah S, Affara N, Vaiman D, Burgoyne P. A genetic basis for a postmeiotic X versus Y chromosome intragenomic conflict in the mouse. PLoS Genet. 2012;8:e1002900 pubmed publisher
    ..multicopy gene Sly has been shown to have a predominant role in the epigenetic repression of post meiotic sex chromatin (PMSC) and, as such, represses X and Y genes, among which are its X-linked homologs Slx and Slxl1...
  17. Rogers R, Inselman A, Handel M, Matunis M. SUMO modified proteins localize to the XY body of pachytene spermatocytes. Chromosoma. 2004;113:233-43 pubmed
    ..Together, these findings indicate a role for SUMO modification in regulating the structure and function of the XY body and reveal molecular similarities between the XY body and PML nuclear bodies...
  18. Chadwick B, Willard H. Barring gene expression after XIST: maintaining facultative heterochromatin on the inactive X. Semin Cell Dev Biol. 2003;14:359-67 pubmed
    ..Here we review the many features of inactive X chromatin in terminally differentiated cells and address the highly redundant mechanisms of maintaining the inactive X chromatin...
  19. Bashyal R, Dali S. Study on koilocytosis, X-chromatin and HSV-2 in cervical smears in Nepal. Nepal Med Coll J. 2004;6:45-8 pubmed
    ..0% cases of CIN I, 33.0% cases of CIN IIl and 40.0% cases of carcinoma cervix with a gradual rising antibody titre of 1:2 in CIN I, 1:7 in CIN III and 1:7 to 1:9 in carcinoma cervix respectively...
  20. Hammadeh M, Zeginiadov T, Rosenbaum P, Georg T, Schmidt W, Strehler E. Predictive value of sperm chromatin condensation (aniline blue staining) in the assessment of male fertility. Arch Androl. 2001;46:99-104 pubmed
    ..Consequently, the inclusion of chromatin condensation to routine laboratory investigations of semen prior to assisted reproduction is strongly recommended...
  21. Eberhart A, Feodorova Y, Song C, Wanner G, Kiseleva E, Furukawa T, et al. Epigenetics of eu- and heterochromatin in inverted and conventional nuclei from mouse retina. Chromosome Res. 2013;21:535-54 pubmed publisher
  22. de la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981;58:105-16 pubmed
  23. Agrawal P, Dey P. Barr body in fine needle aspiration cytology of ovarian malignancies. Diagn Cytopathol. 2012;40:964-6 pubmed publisher
    ..Mean (±SD) Barr body score was 2.4 ± 2.58. Minimum Barr body count was 1 and maximum was 9. The gross reduction of Barr body in ovarian neoplasms is an interesting cytomorphologic finding...
  24. Pageau G, Hall L, Ganesan S, Livingston D, Lawrence J. The disappearing Barr body in breast and ovarian cancers. Nat Rev Cancer. 2007;7:628-33 pubmed
    ..We suggest that heterochromatic instability is a common but largely unexplored mechanism, leading to widespread genomic misregulation and the evolution of some cancers...
  25. Namekawa S, Vandeberg J, McCarrey J, Lee J. Sex chromosome silencing in the marsupial male germ line. Proc Natl Acad Sci U S A. 2007;104:9730-5 pubmed
    ..to meiotic sex chromosome inactivation (MSCI) in the paternal germ line and persists thereafter as postmeiotic sex chromatin (PMSC)...
  26. Mimasaka S, Ohtsu Y, Tsunenari S, Matsukawa A, Hashiyada M, Takahashi S, et al. Sudden death of a young woman due to aortic dissection caused by Turner's syndrome. Pathol Int. 2007;57:219-23 pubmed
    ..Examination of the X chromatin showed a decrease in numbers of Barr bodies in the tissues, and a 45,X/46,XX mosaicism was suspected. It is concluded that the cause of death was aortic dissection due to Turner's syndrome...
  27. Tobler J, Bowman J, Simmons J. Gene modulation in Drosophila: dosage compensation and relocated v + genes. Biochem Genet. 1971;5:111-7 pubmed
  28. . Sexing of female athletes. Lancet. 1987;2:667-8 pubmed
  29. Benachour H, Zaiou M, Samara A, Herbeth B, Pfister M, Lambert D, et al. Association of human cathelicidin (hCAP-18/LL-37) gene expression with cardiovascular disease risk factors. Nutr Metab Cardiovasc Dis. 2009;19:720-8 pubmed publisher
    ..001 to p<or=0.05) in men. Our results suggest that LL-37 gene expression may be closely associated with cardiovascular risk factors independently of BMI and WC. However, functional studies are required to confirm these data. ..
  30. Mermoud J, Costanzi C, Pehrson J, Brockdorff N. Histone macroH2A1.2 relocates to the inactive X chromosome after initiation and propagation of X-inactivation. J Cell Biol. 1999;147:1399-408 pubmed
    ..The timing of macroH2A1.2 accumulation on the Xi suggests it is not necessary for the initiation or propagation of random X-inactivation...
  31. Masui O, Heard E. RNA and protein actors in X-chromosome inactivation. Cold Spring Harb Symp Quant Biol. 2006;71:419-28 pubmed
  32. de Vries M, Vosters S, Merkx G, D Hauwers K, Wansink D, Ramos L, et al. Human male meiotic sex chromosome inactivation. PLoS ONE. 2012;7:e31485 pubmed publisher
    ..These results point at relaxation of MSCI, which can be explained by genetic changes in sex chromosome composition during evolution and candidates as a mechanism behind human sperm heterogeneity...
  33. Evenson D, Wixon R. Clinical aspects of sperm DNA fragmentation detection and male infertility. Theriogenology. 2006;65:979-91 pubmed
    ..Current data suggest that intracytoplasmic sperm injection (ICSI) may help overcome the diminished pregnancy prognosis with high DFI over the other ART or natural methods...
  34. Kamischke A, Baumgardt A, Horst J, Nieschlag E. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl. 2003;24:41-8 pubmed
    ..Barr body analysis provides a quick and reliable screening test, which, however, must be confirmed by karyotyping...
  35. Hoyer Fender S, Czirr E, Radde R, Turner J, Mahadevaiah S, Pehrson J, et al. Localisation of histone macroH2A1.2 to the XY-body is not a response to the presence of asynapsed chromosome axes. J Cell Sci. 2004;117:189-98 pubmed
    ..MacroH2A1.2 and HP1 beta co-localise to autosomal pericentromeric heterochromatin in spermatocytes. However, the two proteins show temporally and spatially distinct patterns of association to X and Y chromatin...
  36. Koh E, Suzuki H, Namiki M. [Impaired spermatogenesis and genes]. Nihon Rinsho. 2004;62:334-8 pubmed
    ..However, the frequency of expression in AZF genes is relatively low. This discrepancy is probably due to repetitive sequence of complex palindromes in the Yq...
  37. Anoop U, Ramesh V, Balamurali P, Nirima O, Premalatha B, Karthikshree V. Role of Barr bodies obtained from oral smears in the determination of sex. Indian J Dent Res. 2004;15:5-7 pubmed
    ..Barr body can be easily identified with ordinary stains. It also helps in identifying the sex of an individual when used judiciously. A review is made on the lyonization of Barr body and its utility in sex determination...
  38. Datar U, Angadi P, Hallikerimath S, Kale A. Cytological assessment of Barr bodies using aceto-orcein and papanicolaou stains in buccal mucosal smears and their sex estimation efficacy in an Indian sample. Acta Cytol. 2013;57:516-21 pubmed publisher
    ..Aceto-orcein (AO) is a relatively unexplored staining technique for this purpose. This study aims to assess the efficacy of sex determination using AO and PAP stains for the detection of Barr bodies in buccal mucosal scrapes...
  39. GRUNEBERG H. The molars of the tabby mouse, and a test of the 'single-active X-chromosome' hypothesis. J Embryol Exp Morphol. 1966;15:223-44 pubmed
  40. Sandler L. The meiotic mechanics of ring chromosomes in female Drosophila melanogaster. Natl Cancer Inst Monogr. 1965;18:243-73 pubmed
  41. Jiang J, Jing Y, Cost G, Chiang J, Kolpa H, Cotton A, et al. Translating dosage compensation to trisomy 21. Nature. 2013;500:296-300 pubmed publisher
    ..Successful trisomy silencing in vitro also surmounts the major first step towards potential development of 'chromosome therapy'. ..
  42. de la Chapelle A. Analytic review: nature and origin of males with XX sex chromosomes. Am J Hum Genet. 1972;24:71-105 pubmed
  43. Teller K, Illner D, Thamm S, Casas Delucchi C, Versteeg R, Indemans M, et al. A top-down analysis of Xa- and Xi-territories reveals differences of higher order structure at ? 20 Mb genomic length scales. Nucleus. 2011;2:465-77 pubmed publisher
    ..In contrast to a previous report, genes subject to inactivation as well as escaping from inactivation were not excluded from the interior of the Barr body...
  44. Morey C, Avner P. The demoiselle of X-inactivation: 50 years old and as trendy and mesmerising as ever. PLoS Genet. 2011;7:e1002212 pubmed publisher
  45. Wang Y, Zhang W, Jin Y, Johansen J, Johansen K. The JIL-1 tandem kinase mediates histone H3 phosphorylation and is required for maintenance of chromatin structure in Drosophila. Cell. 2001;105:433-43 pubmed
    ..We propose a model where JIL-1 kinase activity is required for maintaining the structure of the more open chromatin regions that facilitate gene transcription...
  46. Bataineh Z, Al Azab M. Prevalence of X-chromatin in Jordanian women. Saudi Med J. 2004;25:456-8 pubmed
    ..This study was conducted to evaluate the distribution of X-chromatin among Jordanian women at different age groups. Results will be compared with other studies for possible racial and environmental effect on X-chromatin distribution...
  47. Costa Y, Speed R, Gautier P, Semple C, Maratou K, Turner J, et al. Mouse MAELSTROM: the link between meiotic silencing of unsynapsed chromatin and microRNA pathway?. Hum Mol Genet. 2006;15:2324-34 pubmed
    ..The presence of MAEL in these critical compartments of male germ cells and its interactions provide a link suggesting the involvement of the miRNA pathway in MSUC...
  48. Kippin T, Sotiropoulos V, Badih J, Pfaus J. Opposing roles of the nucleus accumbens and anterior lateral hypothalamic area in the control of sexual behaviour in the male rat. Eur J Neurosci. 2004;19:698-704 pubmed
    ..These findings indicate that the aLHA plays an inhibitory role in the regulation of sexual arousal and an excitatory role in the regulation of ejaculation. Conversely, the NAc plays an excitatory role in the regulation in sexual arousal...
  49. Abdelmoula N, Amouri A, Portnoi M, Saad A, Boudawara T, Mhiri M, et al. Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome. Ann Genet. 2004;47:163-75 pubmed
    ..FISH is recommended in Klinefelter's syndrome to define exactly the cytogenetic statute as mosaic or non-mosaic and then discussing prognosis and decision regarding fertility counseling...
  50. Vrabec Branica B, Mitrecic D, Grgić S, Smojver Jezek S, Chalfe N, Gajovic S. PCR-quality DNA isolation from human bronchial aspirates and buccal and eyelid swabs by a simple procedure based on alkaline lysis. Genet Test Mol Biomarkers. 2009;13:799-802 pubmed publisher
    ..Testing the method used for amplification of sex chromatin gene fragments showed that it is highly efficient...
  51. Mittal T, Saralaya K, Kuruvilla A, Achary C. Sex determination from buccal mucosa scrapes. Int J Legal Med. 2009;123:437-40 pubmed publisher
    ..This method not only proves to be accurate but is also simple and economic...
  52. Traut W, Sahara K, Marec F. Sex chromosomes and sex determination in Lepidoptera. Sex Dev. 2007;1:332-46 pubmed publisher
    ..Special strains have been devised for mass rearing of male-only broods in the silkworm for higher silk production and in pest species for the release of sterile males in pest management programs...
  53. Franco M, Sciurano R, Solari A. Protein immunolocalization supports the presence of identical mechanisms of XY body formation in eutherians and marsupials. Chromosome Res. 2007;15:815-24 pubmed
    ..These observations and recent data from the literature suggest that XY body formation is ancestral to the metatherian-eutherian divergence...
  54. Aitken R, De Iuliis G. Value of DNA integrity assays for fertility evaluation. Soc Reprod Fertil Suppl. 2007;65:81-92 pubmed
  55. 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
    ..in mammalian female somatic cells leads to condensation of the inactive X chromosome into the heterochromatic sex chromatin, or Barr body...
  56. Brooks W, Satoh M, Hong B, Reeves W, Yang T. Autoantibodies from an SLE patient immunostain the Barr body. Cytogenet Genome Res. 2002;97:28-31 pubmed
    ..Serum from a patient with systemic lupus erythematosus immunostained epi- topes concentrated at the Barr body in female fibroblasts. Such autoantibodies provide a novel tool for characterization of Barr body composition and structure...
  57. Zybina E, Bogdanova M, Zybina T, Shteĭn G. [A study of DNA depolyploidization and depolytenization of the heterochromatized gonosomal chromatin bodies in the secondary giant trophoblast cells of the field vole Microtus rossiaemeridionalis using cytophotometry]. Tsitologiia. 2005;47:866-73 pubmed
    ..We discuss a possible mechanism of nuclear fragmentation that may ensure substantially a balanced genome of nuclear fragments without leading to mitotic cycle renewal in the giant trophoblast cell population...
  58. Clemson C, Hall L, Byron M, McNeil J, Lawrence J. The X chromosome is organized into a gene-rich outer rim and an internal core containing silenced nongenic sequences. Proc Natl Acad Sci U S A. 2006;103:7688-93 pubmed
    ..Instead of acting at a local gene level, XIST RNA appears to interact with and silence core architectural elements to effectively condense and shut down the Xi...
  59. Deng H, Zhang W, Bao X, Martin J, Girton J, Johansen J, et al. The JIL-1 kinase regulates the structure of Drosophila polytene chromosomes. Chromosoma. 2005;114:173-82 pubmed
  60. Smith K, Byron M, Clemson C, Lawrence J. Ubiquitinated proteins including uH2A on the human and mouse inactive X chromosome: enrichment in gene rich bands. Chromosoma. 2004;113:324-35 pubmed
    ..These results provide evidence that ubiquitination along with Xist RNA plays an important role in the formation of facultative heterochromatin during X-inactivation...
  61. Nagai K. Molecular basis governing primary sex in mammals. Jpn J Hum Genet. 1996;41:363-79 pubmed
    ..Therefore, the significance on the involvement of these genes in the molecular mechanism of mammalian sex determination should be also considered...