(1) Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA
Abstract:
Background
Chromosomal abnormalities affecting human chromosome 15q11-q13 underlie multiple genomic disorders caused by deletion, duplication
and triplication of intervals in this region. These events are mediated by highly homologous segments of DNA, or duplicons,
that facilitate mispairing and unequal cross-over in meiosis. The gene encoding an amyloid precursor protein-binding protein
(APBA2) was previously mapped to the distal portion of the interval commonly deleted in Prader-Willi and Angelman syndromes and
duplicated in cases of autism.