Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations

Warren, Madhuri and Smith, Amanda and Partridge, Natalie and Masabanda, Julio S. and Griffin, Darren K. and Ashworth, Alan (2002) Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations. Human Molecular Genetics, 11 (7). pp. 841-851. ISSN 0964-6906. (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided)

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Carriers of mutations in the BRCA2 gene have a high risk of developing breast and other cancers. The BRCA2 gene, which is located on human chromosome 13, encodes a very large protein of only poorly understood function. To define regions of sequence conservation and highlight potentially functionally important domains, we have cloned and characterized the chicken BRCA2 gene, the first non-mammalian BRCA2 gene to be described. The gene is organized similarly to the human BRCA2 gene, but is more compact and is localized to the subtelomeric region of chicken chromosome 1q, within a region that contains other genes from human chromosome 13. The chicken BRCA2 gene encodes a protein of 3399 amino acids, which is poorly conserved with mammalian BRCA2 proteins, having only 37% amino acid identity overall with human BRCA2. However, certain domains are much more highly conserved, indicating functional significance. We describe genes with some of these conserved domains in organisms as diverse as intracellular parasites, mosquitoes and plants. The evolutionarily divergent chicken BRCA2 sequence may also be useful in assigning the large number of sequence variants that have been described in the human BRCA2 gene which are of unknown significance in disease causation.

Item Type: Article
Additional information: 11929857 0964-6906
Uncontrolled keywords: Amino Acid Sequence Animals Avian Proteins BRCA2 Protein Chickens Chromosome Mapping In Situ Hybridization, Fluorescence Molecular Sequence Data Mutation Phylogeny Protein Structure, Tertiary Sequence Alignment Sequence Analysis, DNA Sequence Analysis, Protein
Subjects: Q Science
Divisions: Faculties > Science Technology and Medical Studies > School of Biosciences
Depositing User: Darren Griffin
Date Deposited: 25 Oct 2008 17:39
Last Modified: 14 Jul 2014 12:41
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