The role of X-chromosome inactivation in female predisposition to autoimmunity.
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.
Chitnis
S
S
Division of Biology and Human Genetics, North Shore University Hospital, Manhasset, New York 11030, USA.
Monteiro
J
J
Glass
D
D
Apatoff
B
B
Salmon
J
J
Concannon
P
P
Gregersen
P K
PK
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
D011944:Receptors, Androgen