Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2.
J Hum Genet
; 56(5): 390-7, 2011 May.
Article
in En
| MEDLINE
| ID: mdl-21412246
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomal Proteins, Non-Histone
/
Cell Cycle Proteins
/
Chromosomes, Human, X
/
X Chromosome Inactivation
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
America do norte
Language:
En
Journal:
J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2011
Document type:
Article
Affiliation country:
Canada