| Autor: |
Renault NK; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada., Renault MP, Copeland E, Howell RE, Greer WL |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of human genetics [J Hum Genet] 2011 May; Vol. 56 (5), pp. 390-7. Date of Electronic Publication: 2011 Mar 17. |
| DOI: |
10.1038/jhg.2011.25 |
| Abstrakt: |
The gene dosage inequality between females with two X-chromosomes and males with one is compensated for by X-chromosome inactivation (XCI), which ensures the silencing of one X in every somatic cell of female mammals. XCI in humans results in a mosaic of two cell populations: those expressing the maternal X-chromosome and those expressing the paternal X-chromosome. We have previously shown that the degree of mosaicism (the X-inactivation pattern) in a Canadian family is directly related to disease severity in female carriers of the X-linked recessive bleeding disorder, haemophilia A. The distribution of X-inactivation patterns in this family was consistent with a genetic trait having a co-dominant mode of inheritance, suggesting that XCI choice may not be completely random. To identify genetic elements that could be responsible for biased XCI choice, a linkage analysis was undertaken using an approach tailored to accommodate the continuous nature of the X-inactivation pattern phenotype in the Canadian family. Several X-linked regions were identified, one of which overlaps with a region previously found to be linked to familial skewed XCI. SA2, a component of the cohesin complex is identified as a candidate gene that could participate in XCI through its association with CTCF. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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