Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures
| Autor: | James S. Sutcliffe, Erika L. Nurmi, Robert A. Kesterson, Michael K Han, Taneem Amin |
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| Rok vydání: | 2003 |
| Předmět: |
Autism
Gene Dosage Sequence Homology Inbred C57BL Medical and Health Sciences Exon Mice Gene Duplication Gene duplication Gene Order Developmental Genetics Pediatric Physical Chromosome Mapping Nucleic acid sequence Gene Expression Regulation Developmental Adaptor Proteins Low copy repeats Telomere Biological Sciences Cadherins Mental Health Chromosomes Human Pair 9 Biotechnology Research Article Human Pair 9 lcsh:QH426-470 Bioinformatics lcsh:Biotechnology Intellectual and Developmental Disabilities (IDD) 1.1 Normal biological development and functioning Molecular Sequence Data Locus (genetics) Nerve Tissue Proteins Biology Gene dosage Chromosomes Underpinning research Sequence Homology Nucleic Acid lcsh:TP248.13-248.65 Information and Computing Sciences Animals Humans Gene Adaptor Proteins Signal Transducing Brain Chemistry Chromosomes Human Pair 15 Nucleic Acid Gene Expression Profiling Pair 15 Signal Transducing Neurosciences Brain Disorders Mice Inbred C57BL lcsh:Genetics Gene Expression Regulation Carrier Proteins |
| Zdroj: | BMC genomics, vol 4, iss 1 BMC Genomics, Vol 4, Iss 1, p 15 (2003) BMC Genomics |
| Popis: | 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. Results We show that this gene actually maps to a more telomeric location and is partially duplicated within the broader region. Two highly homologous copies of an interval containing a large 5' exon and downstream sequence are located ~5 Mb distal to the intact locus. The duplicated copies, containing the first coding exon of APBA2, can be distinguished by single nucleotide sequence differences and are transcriptionally inactive. Adjacent to APBA2 maps a gene termed KIAA0574. The protein encoded by this gene is weakly homologous to a protein termed X123 that in turn maps adjacent to APBA1 on 9q21.12; APBA1 is highly homologous to APBA2 in the C-terminal region and is distinguished from APBA2 by the N-terminal region encoded by this duplicated exon. Conclusion The duplication of APBA2 sequences in this region adds to a complex picture of different low copy repeats present across this region and elsewhere on the chromosome. |
| Databáze: | OpenAIRE |
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