Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1

Pettigrew, C. A., French, J. D., Saunus, J. M., Edwards, S. L., Sauer, A. V., Smart, C. E., Lundstrom, H. T., Wiesner, C., Spurdle, A. B., Rothnagel, J. A. and Brown, M. A. (2010) Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1. Breast Cancer Research and Treatment, 119 1: 239-247. doi:10.1007/s10549-008-0256-2

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Author Pettigrew, C. A.
French, J. D.
Saunus, J. M.
Edwards, S. L.
Sauer, A. V.
Smart, C. E.
Lundstrom, H. T.
Wiesner, C.
Spurdle, A. B.
Rothnagel, J. A.
Brown, M. A.
Title Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1
Formatted title
Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1
Journal name Breast Cancer Research and Treatment   Check publisher's open access policy
ISSN 0167-6806
1573-7217
Publication date 2010-01-01
Year available 2008
Sub-type Article (original research)
DOI 10.1007/s10549-008-0256-2
Open Access Status
Volume 119
Issue 1
Start page 239
End page 247
Total pages 9
Editor M. E. Lippmann
Place of publication New York, NY, United States
Publisher Springer
Language eng
Subject C1
060408 Genomics
060407 Genome Structure and Regulation
060103 Cell Development, Proliferation and Death
111203 Cancer Genetics
920102 Cancer and Related Disorders
920507 Women's Health
1112 Oncology and Carcinogenesis
Abstract Recent characterization of the mammalian transcriptome has confirmed its predicted complexity, with many loci encoding multiple splice variants and pseudogenes. The breast cancer susceptibility gene BRCA1 is a tumour suppressor gene that produces multiple functional transcripts. For example, BRCA1-IRIS is a splice variant of BRCA1, which encodes a protein that is functionally distinct from BRCA1. Here we describe the identification of ten novel Brca1 splice variants including Brca1-Iris, the mouse orthologue of human BRCA1-IRIS. We show that Brca1-Iris is differentially expressed during mammary epithelial differentiation and regulates survival of mammary epithelial cells. Another transcript, Brca1-Delta 22, expressed in both mouse and human cells, was found to be defective in transcriptional activation capacity. Finally, we show that the human BRCA1 pseudogene produces a spliced pseudoBRCA1 transcript. The identification of these transcripts has implications for the understanding of the role of BRCA1 in biology and disease and for the interpretation of mouse knockout models.
Formatted abstract
Recent characterization of the mammalian transcriptome has confirmed its predicted complexity, with many loci encoding multiple splice variants and pseudogenes. The breast cancer susceptibility gene BRCA1 is a tumour suppressor gene that produces multiple functional transcripts. For example, BRCA1-IRIS is a splice variant of BRCA1, which encodes a protein that is functionally distinct from BRCA1. Here we describe the identification of ten novel Brca1 splice variants including Brca1-Iris, the mouse orthologue of human BRCA1-IRIS. We show that Brca1-Iris is differentially expressed during mammary epithelial differentiation and regulates survival of mammary epithelial cells. Another transcript, Brca1-Δ22, expressed in both mouse and human cells, was found to be defective in transcriptional activation capacity. Finally, we show that the human BRCA1 pseudogene produces a spliced pseudoBRCA1 transcript. The identification of these transcripts has implications for the understanding of the role of BRCA1 in biology and disease and for the interpretation of mouse knockout models.
© Springer Science+Business Media, LLC. 2008
Keyword BRCA1
Brca1
Splice variant
Pseudogene
Brca1-Iris
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID 401651
Institutional Status UQ
Additional Notes Published online: December 10, 2008

 
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