Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 181, Issue 1, Pages 76-85Publisher
WILEY
DOI: 10.1002/ajmg.c.31681
Keywords
four core genotypes; sex chromosome aneuploidy; Turner syndrome
Categories
Funding
- National Heart, Lung, and Blood Institute [HL131182]
- National Institute of Child Health and Human Development [HD076125, HD090637]
- National Institute of Diabetes and Digestive and Kidney Diseases [DK083561]
- National Institute of Neurological Disorders and Stroke [NS043196]
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Although XO mice do not show many of the overt phenotypic features of Turner syndrome (TS; 45,X or XO), mice and humans share different classes of genes on the X chromosome that are more or less likely to cause TS phenotypes. Based on the evolutionary history of the sex chromosomes, and the pattern of dosage balancing among sex chromosomal and autosomal genes in functional gene networks, it is possible to prioritize types of X genes for study as potential causes of features of TS. For example, X-Y gene pairs are among the most interesting because of the convergent effects of X and Y genes that both are likely to prevent the effects of TS in XX and XY individuals. Many of the high-priority genes are shared by mouse and human X chromosomes, but are easier to study in genetically tractable mouse models. Several mouse models, used primarily for the study of sex differences in physiology and disease, also produce XO mice that can be investigated to understand the effects of X monosomy. Using these models will lead to the identification of specific X genes that make a difference when present in one or two copies. These studies will help to achieve a better appreciation of the contribution of these specific X genes to the syndromic features of TS.
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