| Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy. | |
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MedLine Citation:
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PMID: 19215059 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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X-chromosome inactivation (XCI) is an epigenetic process used to regulate gene dosage in mammalian females by silencing genes on one X-chromosome. While the pattern of XCI is typically random in normal females, abnormalities of the X-chromosome may result in skewing due to disadvantaged cell growth. We describe a female patient with an X;1 translocation [46,X,t(X;1)(q28;q21)] and unusual pattern of XCI who demonstrates functional disomy of the Xq28 region distal to the translocation breakpoint. There was complete skewing of XCI in the patient, along with the atypical findings of an active normal X chromosome and an inactive derivative X. Characterization of the translocation revealed that the patient's Xq28 breakpoint interrupts the DKC1 gene. Molecular analysis of the breakpoint region revealed functional disomy of Xq28 genes distal to DKC1. We propose that atypical XCI occurred in the patient due to a post-inactivation cell selection mechanism likely initiated by disruption of DKC1. As a result, the pattern of XCI is opposite that of the expected for an X;autosome translocation. Therefore, we suggest the phenotypic abnormalities found in the patient are a result of functional disomy in the Xq28 region. |
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Authors:
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Catherine E Cottrell; Annemarie Sommer; Gail D Wenger; Steven Bullard; Tamara Busch; Katherine Nash Krahn; Andrew C Lidral; Julie M Gastier-Foster |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2009-03-03 Completed Date: 2009-04-16 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 408-14 Citation Subset: IM |
Copyright Information:
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2009 Wiley-Liss, Inc. |
Affiliation:
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Nationwide Children's Hospital, Columbus, Ohio 43205, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Cell Cycle Proteins / genetics Chromosome Breakage Chromosome Mapping Chromosomes, Artificial, Bacterial Chromosomes, Human, X* DNA, Complementary Dosage Compensation, Genetic* Female Gene Dosage Humans In Situ Hybridization, Fluorescence Nuclear Proteins / genetics Oligonucleotide Array Sequence Analysis Translocation, Genetic* Uniparental Disomy / genetics* X Chromosome Inactivation* |
| Grant Support | |
ID/Acronym/Agency:
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K02 DE015291-01/DE/NIDCR NIH HHS; K02 DE015291-02/DE/NIDCR NIH HHS; K02 DE015291-03/DE/NIDCR NIH HHS; K02 DE015291-04/DE/NIDCR NIH HHS; K02 DE015291-05/DE/NIDCR NIH HHS; K02DE015291/DE/NIDCR NIH HHS; P60 DE013076-010005/DE/NIDCR NIH HHS; P60 DE013076-01S10005/DE/NIDCR NIH HHS; P60 DE013076-020005/DE/NIDCR NIH HHS; P60 DE013076-030005/DE/NIDCR NIH HHS; P60 DE013076-03S10005/DE/NIDCR NIH HHS; P60 DE013076-040005/DE/NIDCR NIH HHS; P60 DE013076-050005/DE/NIDCR NIH HHS; R01 DE014667-01/DE/NIDCR NIH HHS; R01 DE014667-02/DE/NIDCR NIH HHS; R01 DE014667-03/DE/NIDCR NIH HHS; R01 DE014667-04/DE/NIDCR NIH HHS; R01 DE014667-05/DE/NIDCR NIH HHS; R01 DE014667-06/DE/NIDCR NIH HHS; R01 DE014667-07/DE/NIDCR NIH HHS; R01 DE014667-08/DE/NIDCR NIH HHS; R01 DE014677/DE/NIDCR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Cell Cycle Proteins; 0/DKC1 protein, human; 0/DNA, Complementary; 0/Nuclear Proteins |
| Comments/Corrections | |
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