Molecular Mechanisms Leading to the Phenotypic Development in Paternal and Maternal Uniparental Disomy for Chromosome 14
نویسندگان
چکیده
Human chromosome 14q32.2 carries a cluster of imprinted genes. They include paternally expressed genes (PEGs) such as DLK1 and RTL1, and maternally expressed genes (MEGs) such as GTL2 (alias, MEG3), RTL1as (RTL1 antisense), and MEG8. Consistent with this, paternal and maternal uniparental disomies for chromosome 14 (upd(14)pat and upd(14)mat) cause distinct phenotypes. In this review, we summarize the current knowledge about the underlying factors for the development of upd(14)pat and upd(14)mat phenotypes. The data available suggest that the DLK1-GTL2 intergenic differentially methylated region (IG-DMR) plays an important role in the maternal to paternal epigenotypic switch, and that excessive RTL1 expression and decreased DLK1 and RTL1 expression play a major role in the development of upd(14)pat-like and upd(14)mat-like phenotypes, respectively.
منابع مشابه
Maternal uniparental disomy for chromosome 14.
We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he has hydrocephalus, a bifid uvula, premature puberty, short stature, and small testes. It is not ...
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