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X chromosome in autoimmune diseases
Pietro Invernizzi1, Simone Pasini, Mauro Podda
1Department of Internal Medicine, Istituto Clinico Humanitas IRCCS, University of Milan, Via Manzoni 56, 20089 Rozzano, Milan, Italy. pietro.invernizzi@unimi.it
Expert Review of Clinical Immunology
|May 19, 2010
Summary
Genetic factors influence autoimmune disease risk, particularly in women. This review examines X-chromosome abnormalities, like inactivation patterns and monosomy, as potential contributors to female-predominant autoimmune conditions.
Area of Science:
- Immunology
- Genetics
- Sex Differences in Disease
Background:
- Autoimmune diseases affect ~5% of Western populations, disproportionately impacting women.
- While hormones and fetal microchimerism are studied, definitive biological sex differences in autoimmunity remain unclear.
- Genetic factors are strongly implicated, but specific female-predisposing genes are unidentified.
Purpose of the Study:
- To review current data on X-chromosome abnormalities in female-predominant autoimmune diseases.
- To explore the role of X-chromosome inactivation patterns and monosomy in disease susceptibility.
- To identify potential genetic targets on sex chromosomes for future research.
Main Methods:
- Literature review of recent studies on X-chromosome abnormalities and autoimmunity.
- Analysis of data concerning X-chromosome inactivation patterns.
- Examination of X monosomy prevalence in relevant autoimmune conditions.
Main Results:
- X-chromosome abnormalities, including variable inactivation and monosomy, are observed in certain autoimmune diseases more common in women.
- These findings suggest a potential link between sex chromosome complement and autoimmune susceptibility.
- Current research highlights the need for further investigation into sex chromosome-specific genetic factors.
Conclusions:
- X-chromosome abnormalities represent a plausible area for understanding female predisposition to autoimmune diseases.
- Future high-throughput genetic analyses are expected to identify specific gene clusters on sex chromosomes linked to disease susceptibility or resistance.
- This research opens new avenues for targeted therapies and prevention strategies in autoimmune disorders.
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02:32X and Y Chromosomes
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01:58X-Inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
01:58X-inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.