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Splice variant lacking the transactivation domain of the BRCA2 gene and mutations in the splice acceptor site of intron 2

Splice variant lacking the transactivation domain of the BRCA2 gene and mutations in the splice... case was a relationship between the amount of the alternatively spliced transcript and the presence of an IVS2–7 intronic variant observed. In other words, we did not observe an excess of the shorter RT-PCR products in samples carrying the hypothetical DNA splicing variants. The BRCA2 exon 3 shows sequence similarity to the activation domain of Jun. Indeed, it presents a primary and auxiliary transactivation activity when fused with the Gal4 DNA binding domain (Milner et al., 1997). It appears, therefore, that this domain plays an important role in the function of the BRCA2 protein. The skipping of exon 3 does not alter the reading frame, thus it is not predicted to alter the amino acid sequence of exon 11 and of the C-terminal region of the BRCA2 protein, in which RAD51 binding sites and a nuclear localization signal, respectively, were demonstrated. The differential splicing may provide a subtle form of regulation of BRCA2 functions. Recently, a study demonstrated that a BRCA2a protein, lacking the putative transcriptional activation domain, was expressed at the same high levels as wild-type BRCA2 in thymus and testis, and at more moderate levels in mammary gland and prostate (Zou et al., 1999). The authors http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Genes, Chromosomes and Cancer Wiley

Splice variant lacking the transactivation domain of the BRCA2 gene and mutations in the splice acceptor site of intron 2

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References (4)

Publisher
Wiley
Copyright
Copyright © 1999 Wiley‐Liss, Inc.
ISSN
1045-2257
eISSN
1098-2264
DOI
10.1002/(SICI)1098-2264(199912)26:4<381::AID-GCC14>3.0.CO;2-N
Publisher site
See Article on Publisher Site

Abstract

case was a relationship between the amount of the alternatively spliced transcript and the presence of an IVS2–7 intronic variant observed. In other words, we did not observe an excess of the shorter RT-PCR products in samples carrying the hypothetical DNA splicing variants. The BRCA2 exon 3 shows sequence similarity to the activation domain of Jun. Indeed, it presents a primary and auxiliary transactivation activity when fused with the Gal4 DNA binding domain (Milner et al., 1997). It appears, therefore, that this domain plays an important role in the function of the BRCA2 protein. The skipping of exon 3 does not alter the reading frame, thus it is not predicted to alter the amino acid sequence of exon 11 and of the C-terminal region of the BRCA2 protein, in which RAD51 binding sites and a nuclear localization signal, respectively, were demonstrated. The differential splicing may provide a subtle form of regulation of BRCA2 functions. Recently, a study demonstrated that a BRCA2a protein, lacking the putative transcriptional activation domain, was expressed at the same high levels as wild-type BRCA2 in thymus and testis, and at more moderate levels in mammary gland and prostate (Zou et al., 1999). The authors

Journal

Genes, Chromosomes and Cancer – Wiley

Published: Dec 1, 1999

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