title: The role of X-chromosome inactivation in female predisposition to autoimmunity.
abstract: We propose that the phenomenon of X-chromosome inactivation in females may constitute a risk factor for loss of T-cell tolerance; specifically that skewed X-chromosome inactivation in the thymus may lead to inadequate thymic deletion. Using a DNA methylation assay, we have examined the X-chromosome inactivation patterns in peripheral blood from normal females (n = 30), female patients with a variety of autoimmune diseases (n = 167). No differences between patients and controls were observed. However, locally skewed X-chromosome inactivation may exist in the thymus, and therefore the underlying hypothesis remains to be disproved.
authors.affiliation: Division of Biology and Human Genetics, North Shore University Hospital, Manhasset, New York 11030, USA.
authors.forename: S
authors.initials: S
authors.lastname: Chitnis
authors.forename: J
authors.initials: J
authors.lastname: Monteiro
authors.forename: D
authors.initials: D
authors.lastname: Glass
authors.forename: B
authors.initials: B
authors.lastname: Apatoff
authors.forename: J
authors.initials: J
authors.lastname: Salmon
authors.forename: P
authors.initials: P
authors.lastname: Concannon
authors.forename: P K
authors.initials: PK
authors.lastname: Gregersen
mesh_terms: D000483:Alleles; D001327:Autoimmune Diseases / Q000235:genetics*; D015984:Causality; D004252:DNA Mutational Analysis; D004303:Dosage Compensation, Genetic; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D011944:Receptors, Androgen / Q000235:genetics; D012737:Sex Factors; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D011944:Receptors, Androgen