Uniparental Disomy and Human Disease

Inheritance of two copies of one parent's chromosome (or part of it) is called uniparental disomy, a type of chromosome aberration. Detection of uniparental disomy in individuals with genetic disorders was one of the first clues that imprinting had important developmental and medical consequences.

Prader-Willi syndrome and Angelman syndrome can both be caused by uniparental disomy of chromosome 15, which carries a maternally expressed, paternally imprinted gene. Two maternal copies of the gene causes Prader-Willi syndrome, which is marked by mild mental retardation, decreased growth of the gonads, and obesity. Two paternal copies of this same gene causes Angelman syndrome, marked by severe mental retardation, small head size, seizures, inappropriate laughter, and distinctive facial features. (The gene itself codes for a protein involved in degrading other proteins.) Imprinting defects can also cause these syndromes in the absence of uniparental disomy, since the result is the same: either zero or two copies of the gene are expressed.

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