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CC BY-NC-ND V4.0, Open Access
Journal article
Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13
Genomics (San Diego, Calif.), Vol.36(1), pp.86-99
1996
Handle:
https://hdl.handle.net/2376/115453
PMID: 8812419
Abstract
An integrated approach involving physical mapping, identifcation of transcribed sequences, and computational analysis of genomic sequence was used to generate a detailed transcription map of the 1.0-Mb region containing the breast cancer susceptibility locus BRCA2 on chromosome 13q12–q13. This region is included in the genetic interval bounded by D13S1444 and D13S310. Retrieved sequences from exon amplif-cation or hybrid selection procedures were grouped into physical intervals and subsequently grouped into transcription units by clone overlap. Overlap was established by direct hybridization, cDNA library screening, PCR cDNA linking (island hopping), and/ or sequence alignment. Extensive genomic sequencing was performed in an effort to understand transcription unit organization. In total, approximately 500 kb of genomic sequence was completed. The transcription units were further characterized by hybridization to RNA from a series of human tissues. Evidence for seven genes, two putative pseudogenes, and nine additional putative transcription units was obtained. One of the transcription units was recently identifed as BRCA2 but all others are novel genes of unknown function as only limited alignment to sequences in public databases was observed. One large gene with a transcript size of 10.7 kb showed signifcant similarity to a gene predicted by the Caenorhabditis elegans genome and the Saccharomyces cerevisiae genome sequencing efforts, while another contained a motif sequence similar to the human 2*, 3* cyclic nucleotide 3* phosphodies-terase gene. Several retrieved transcribed sequences were not aligned into transcription units because no corresponding cDNAs were obtained when screening libraries or because of a lack of defnitive evidence for splicing signals or putative coding sequence based on computational analysis. However, the presence of additional genes in the BRCA2 interval is suggested as groups of putative exons and hybrid selected clones that were transcribed in consistent orientations could be localized to common physical intervals. q 1996 Academic Press, Inc.
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Details
- Title
- Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13
- Creators
- Robert Bogden - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesF. J COUCH - Department of Medicine, Department of Pathology, and Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United StatesJ SWENSEN - University of UtahJ. M ROMMENS - Department of Genetics, Research Institute, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, CanadaL FARID - Department of Medicine, Department of Pathology, and Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United StatesC FRYE - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesT HATTIER - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesT JANECKI - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesP JIANG - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesR KEHRER - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesJ.-F LEBLANC - Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, Quebec, G1V 4G2, CanadaJ MCARTHUR-MORRISON - Department of Genetics, Research Institute, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, CanadaD MCSWEENEY - Department of Genetics, Research Institute, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, CanadaY MIKI - Division of Biochemistry, Cancer Institute, Tokyo, JapanS. L NEUHAUSEN - Genetic Epidemiology Group, Department of Medical Informatics, Univeristy of Utah School of Medicine, Salt Lake City, Utah 84132, United StatesY PENG - Department of Medicine, Department of Pathology, and Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United StatesC SAMSON - Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, Quebec, G1V 4G2, CanadaM SCHROEDER - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesSarah C. Snyder - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesC STROUP - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesM STRINGFELLOW - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesB SWEDLUND - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesD TENG - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesS THAKUR - Department of Medicine, Department of Pathology, and Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United StatesC BELANGER - Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, Quebec, G1V 4G2, CanadaT TRAN - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesM TRANCHANT - Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, Quebec, G1V 4G2, CanadaJ WELVER-FELDHAUS - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesA. K. C WONG - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesH SHIZUYA - Division of Biology, California Institute of Technology, Pasadena, California 91125, United StatesF LABRIE - Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, Quebec, G1V 4G2, CanadaM. H SKOLNICK - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesD. E GOLDGAR - Genetic Epidemiology Group, Department of Medical Informatics, Univeristy of Utah School of Medicine, Salt Lake City, Utah 84132, United StatesA KAMB - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesB. L WEBER - Department of Medicine, Department of Pathology, and Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United StatesM DUMONT - Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, Quebec, G1V 4G2, CanadaS. V TAVTIGIAN - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesJ SIMARD - Laboratory of Molecular Endocrinology, CHUL Research Center and Laval University, Quebec City, Quebec, G1V 4G2, CanadaK ABEL - Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, United StatesR BELL - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesS BERRY - Myriad Genetics Inc., 390 Wakara Way, Salt Lake City, Utah 84108, United StatesL CANNON-ALBRIGHT - Genetic Epidemiology Group, Department of Medical Informatics, Univeristy of Utah School of Medicine, Salt Lake City, Utah 84132, United States
- Publication Details
- Genomics (San Diego, Calif.), Vol.36(1), pp.86-99
- Academic Unit
- Center for Reproductive Biology
- Publisher
- Elsevier; San Diego, CA
- Identifiers
- 99900547946801842
- Language
- English
- Resource Type
- Journal article