Abstract:
:The breast cancer susceptibility gene BRCA2 encodes a protein of 3418 amino acids which does not exhibit substantial sequence similarity to any other protein in the public databases. A dot matrix comparison of BRCA2 with itself revealed an eight times repeated motif in the segment of the protein encoded by exon 11. As a preliminary test of the hypothesis that these motifs are functionally significant, we have sequenced exon 11 of BRCA2 in six mammals. An alignment of the predicted protein sequences shows that, overall, the motifs have been conserved while much of the intervening sequences has diverged. These data support the notion that the BRC motifs are important in BRCA2 function. There is, however, considerable interspecies variation within certain motif units, raising the possibility of redundancy and that not all of the repeats are required for the normal function of BRCA2.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Bignell G,Micklem G,Stratton MR,Ashworth A,Wooster Rdoi
10.1093/hmg/6.1.53subject
Has Abstractpub_date
1997-01-01 00:00:00pages
53-8issue
1eissn
0964-6906issn
1460-2083pii
dda010journal_volume
6pub_type
杂志文章abstract::There are two known mRNA degradation pathways, 3' to 5' and 5' to 3'. We identified likely pathogenic variants in two genes involved in these two pathways in individuals with intellectual disability. In a large family with multiple branches, we identified biallelic variants in DCPS in three affected individuals; a spl...
journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
pub_type: 杂志文章,meta分析
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journal_title:Human molecular genetics
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