Home LiteratureArticle Details
PMID: 8651285 Published · ppublish English Comment Editorial Review

Genetic control of X inactivation and processes leading to X-inactivation skewing.

American journal of human genetics ·Vol. 58 ·No. 6 ·1996-06-00 ·Pages 1101-8

Belmont JW

Abstract

暂无摘要

MeSH Terms
Animals Female Gene Expression Regulation, Developmental Genetic Diseases, Inborn/genetics Genomic Imprinting Humans Male Models, Genetic RNA, Long Noncoding RNA, Untranslated Sex Chromosome Aberrations Sex Determination Analysis Transcription Factors/biosynthesis Translocation, Genetic X Chromosome Y Chromosome
Chemicals
RNA, Long Noncoding RNA, Untranslated Transcription Factors XIST non-coding RNA
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Belmont J W
References (62)
62 references, click to expand
  1. The human X-inactivation centre is not required for maintenance of X-chromosome inactivation.
    Nature. 1994 Mar 10;368(6467):154-6 PMID: 8139659
  2. Mapping the murine Xce locus with (CA)n repeats.
    Mamm Genome. 1993 Sep;4(9):523-30 PMID: 8118102
  3. Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.
    Am J Hum Genet. 1994 Jun;54(6):989-1003 PMID: 8198142
  4. Imprinting and X chromosome counting mechanisms determine Xist expression in early mouse development.
    Cell. 1994 Jun 3;77(5):639-50 PMID: 8205614
  5. Langerhans'-cell histiocytosis (histiocytosis X)--a clonal proliferative disease.
    N Engl J Med. 1994 Jul 21;331(3):154-60 PMID: 8008029
  6. Analysis of replication timing properties of human X-chromosomal loci by fluorescence in situ hybridization.
    Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):6083-7 PMID: 8016119
  7. Evidence that random and imprinted Xist expression is controlled by preemptive methylation.
    Cell. 1994 Apr 8;77(1):41-51 PMID: 8156596
  8. Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.
    Am J Hum Genet. 1994 Jul;55(1):87-95 PMID: 8023855
  9. Role play in X-inactivation.
    Hum Mol Genet. 1994;3 Spec No:1481-5 PMID: 7849742
  10. A polymerase chain reaction assay for non-random X chromosome inactivation identifies monoclonal endometrial cancers and precancers.
    Am J Pathol. 1995 Feb;146(2):501-8 PMID: 7856759
  11. Xce haplotypes show modified methylation in a region of the active X chromosome lying 3' to Xist.
    Proc Natl Acad Sci U S A. 1995 Apr 11;92(8):3531-5 PMID: 7536936
  12. Insights into lymphocyte development from X-linked immune deficiencies.
    Trends Genet. 1995 Mar;11(3):112-6 PMID: 7732573
  13. Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23.
    Am J Med Genet. 1995 Mar 13;56(1):16-21 PMID: 7747779
  14. Gamete-specific methylation correlates with imprinting of the murine Xist gene.
    Nat Genet. 1995 Mar;9(3):312-5 PMID: 7773295
  15. Methylation of the mouse Xist gene in sperm and eggs correlates with imprinted Xist expression and paternal X-inactivation.
    Nat Genet. 1995 Mar;9(3):316-20 PMID: 7773296
  16. X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes.
    Hum Genet. 1995 Aug;96(2):167-76 PMID: 7635465
  17. The molecular basis of paroxysmal nocturnal hemoglobinuria.
    Blood. 1995 Nov 1;86(9):3277-86 PMID: 7579428
  18. X-chromosome inactivation. Pinpointing the centre.
    Nature. 1996 Jan 11;379(6561):116-7 PMID: 8538759
  19. Requirement for Xist in X chromosome inactivation.
    Nature. 1996 Jan 11;379(6561):131-7 PMID: 8538762
  20. Heritability of X chromosome--inactivation phenotype in a large family.
    Am J Hum Genet. 1996 Jun;58(6):1111-9 PMID: 8651287
  21. X-inactivation patterns in monozygotic and dizygotic female twins.
    Am J Med Genet. 1996 Jan 22;61(3):205-8 PMID: 8741864
  22. X-chromosome inactivation is mostly random in placental tissues of female monozygotic twins and triplets.
    Am J Med Genet. 1996 Jan 22;61(3):209-15 PMID: 8741865
  23. Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.
    J Med Genet. 1996 Mar;33(3):177-83 PMID: 8728687
  24. X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.
    J Med Genet. 1996 Mar;33(3):216-20 PMID: 8728694
  25. Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe.
    Blood. 1994 Feb 15;83(4):931-8 PMID: 8111064
  26. Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells.
    Ann Hum Genet. 1969 Oct;33(2):171-6 PMID: 5383983
  27. Primordial cell pool size and lineage relationships of five human cell types.
    Ann Hum Genet. 1973 Jul;37(1):39-48 PMID: 4759903
  28. Evidence for preferential X-chromosome inactivation in a family with Fabry disease.
    Am J Hum Genet. 1977 Jul;29(4):361-70 PMID: 406783
  29. X-inactivation pattern in three cases of X/autosome translocation.
    Am J Med Genet. 1978;1(3):309-17 PMID: 677170
  30. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.
    Proc Natl Acad Sci U S A. 1981 Aug;78(8):5066-70 PMID: 6795626
  31. Primary non-random X-inactivation caused by controlling elements in the mouse demonstrated at the cellular level.
    Genet Res. 1982 Oct;40(2):139-47 PMID: 7152255
  32. X-linked Duchenne muscular dystrophy in an unusual family with manifesting carriers.
    Hum Genet. 1984;67(4):460-2 PMID: 6490012
  33. Expression of the gene defect in X-linked agammaglobulinemia.
    N Engl J Med. 1986 Aug 28;315(9):564-7 PMID: 3488506
  34. Methylation of the mouse hprt gene differs on the active and inactive X chromosomes.
    Mol Cell Biol. 1986 Mar;6(3):914-24 PMID: 3022138
  35. Methylation of the Hprt gene on the inactive X occurs after chromosome inactivation.
    Cell. 1987 Jan 16;48(1):39-46 PMID: 3791414
  36. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.
    J Clin Invest. 1987 May;79(5):1395-400 PMID: 2883199
  37. Female haemophilia A in a family with seeming extreme bidirectional lyonization tendency: abnormal premature X-chromosome inactivation?
    Clin Genet. 1989 Jan;35(1):41-8 PMID: 2564325
  38. Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.
    Am J Hum Genet. 1990 Apr;46(4):672-81 PMID: 2180286
  39. Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27 beta): correlation with X-inactivation status.
    Genomics. 1990 Jun;7(2):182-7 PMID: 1693357
  40. Use of a HpaII-polymerase chain reaction assay to study DNA methylation in the Pgk-1 CpG island of mouse embryos at the time of X-chromosome inactivation.
    Mol Cell Biol. 1990 Sep;10(9):4987-9 PMID: 1697035
  41. Localization of the X inactivation centre on the human X chromosome in Xq13.
    Nature. 1991 Jan 3;349(6304):82-4 PMID: 1985270
  42. The search for the mouse X-chromosome inactivation centre.
    Genet Res. 1990 Oct-Dec;56(2-3):99-106 PMID: 2272521
  43. Characterization of a murine gene expressed from the inactive X chromosome.
    Nature. 1991 May 23;351(6324):325-9 PMID: 2034278
  44. Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome.
    Nature. 1991 May 23;351(6324):329-31 PMID: 2034279
  45. Carrier detection in Wiskott-Aldrich syndrome: combined use of M27 beta for X-inactivation studies and as a linked probe.
    Blood. 1991 Jun 15;77(12):2677-81 PMID: 2043768
  46. Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism.
    Am J Med Genet. 1991 Sep 1;40(3):332-7 PMID: 1951439
  47. Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.
    Am J Med Genet. 1991 Sep 1;40(3):354-64 PMID: 1683155
  48. Acquired aplastic anemia and paroxysmal nocturnal hemoglobinuria: studies on clonality.
    Blood. 1991 Dec 15;78(12):3162-7 PMID: 1720695
  49. Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency.
    Am J Hum Genet. 1992 Apr;50(4):742-8 PMID: 1550118
  50. Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.
    Hum Genet. 1992 Jun;89(4):395-400 PMID: 1618489
  51. Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.
    Am J Hum Genet. 1992 Aug;51(2):291-8 PMID: 1642230
  52. X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.
    J Med Genet. 1992 Sep;29(9):608-14 PMID: 1404291
  53. X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
    Am J Hum Genet. 1992 Nov;51(5):1136-49 PMID: 1415255
  54. The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus.
    Cell. 1992 Oct 30;71(3):515-26 PMID: 1423610
  55. 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 Oct 30;71(3):527-42 PMID: 1423611
  56. Methylation of the DXS255 hypervariable locus 5' CCGG site may be affected by factors other than X-chromosome activation status.
    Genomics. 1992 Sep;14(1):70-4 PMID: 1358800
  57. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.
    Am J Hum Genet. 1992 Dec;51(6):1229-39 PMID: 1281384
  58. Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning.
    Am J Med Genet. 1992 Dec 1;44(6):834-8 PMID: 1481858
  59. Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation.
    Cell. 1993 Jan 29;72(2):171-82 PMID: 8425217
  60. Clonality in myelodysplastic syndromes: demonstration of pluripotent stem cell origin using X-linked restriction fragment length polymorphisms.
    Br J Haematol. 1993 Apr;83(4):589-94 PMID: 8100140
  61. Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST.
    Hum Mol Genet. 1993 Jul;2(7):883-7 PMID: 8364571
  62. Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.
    Am J Hum Genet. 1994 Jan;54(1):25-35 PMID: 7506482
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1996-06-00
Pages
1101-8
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1915050
Subset
IM
Corrections
CommentOn
PMID: 8651287
External Links
PubMed source PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2