Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures.

TitlePartial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures.
Publication TypeJournal Article
Year of Publication2003
AuthorsSutcliffe, JS, Han MK, Amin T, Kesterson RA, Nurmi EL
JournalBMC genomics
Volume4
Issue1
Pagination15
Date Published2003 Apr 29
ISSN1471-2164
KeywordsAdaptor Proteins, Signal Transducing, Animals, Brain Chemistry, Cadherins, Carrier Proteins, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 9, Gene Dosage, Gene Duplication, Gene Expression Profiling, Gene Expression Regulation, Developmental, Gene Order, Humans, Mice, Mice, Inbred C57BL, Molecular Sequence Data, Nerve Tissue Proteins, Physical Chromosome Mapping, Sequence Homology, Nucleic Acid, Telomere
Abstract

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.

DOI10.1111/j.1751-7893.2011.00317.x
Alternate JournalBMC Genomics