Generation of an Integrated Transcription Map of theBRCA2Region on Chromosome 13q12–q13

Couch, Fergus J.; Rommens, Johanna M.; Neuhausen, Susan L.; Bélanger, Carole; Dumont, Martine; Abel, Kenneth; Bell, Russell; Berry, Simon; Bogden, Robert; Cannon‐Albright, Lisa A.; Farid, Linda M.; Frye, Cheryl A.; Hattier, Thomas; Janecki, Teresa; Ping, Jiang; Kehrer, Robert; Leblanc, J F; Mcarthur-Morrison, Jodi; McSweeney, David J.; Miki, Yoshio; Peng, Yi; Samson, C.; Schroeder, Mark E.; Snyder, Sarah C.; Stringfellow, Michael; Stroup, C.; Swedlund, Brad; Swensen, Jeff; Teng, David H.‐F.; Thakur, Sanjay Kumar; Tran, Thanh V.; Tranchant, Martine; Welver-Feldhaus, Jane; Wong, Alexander; Shizuya, Hiroake; Labrie, Fernand; Skolnick, Mark H.; Goldgar, David E.; Kamb, Alexander; Weber, Barbara; Tavtigian, Sean V.; Simard, Jacques

doi:10.1006/geno.1996.0428

Cited by 33 publications

(23 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Pag1p homologs also exist in mammals. A gene encoding a human homolog of Pag1p was found during the construction of a transcription map (Couch et al, 1996). The gene CG003 encodes a 10.7-kb transcript expressed in many tissues.…”

Section: A Pag1 Mutant Displays Morphogenesis Defects Similar To Thosmentioning

confidence: 99%

Pag1p, a Novel Protein Associated with Protein Kinase Cbk1p, Is Required for Cell Morphogenesis and Proliferation inSaccharomyces cerevisiae

Du¹,

Novick

2002

MBoC

101

140

View full text Add to dashboard Cite

Protein kinases in the Cot-1/Orb6/Ndr/Warts family are important regulators of cell morphogenesis and proliferation. Cbk1p, a member of this family in Saccharomyces cerevisiae, has previously been shown to be required for normal morphogenesis in vegetatively growing cells and in haploid cells responding to mating pheromone. A mutant of PAG1, a novel gene in S. cerevisiae, displayed defects similar to those of cbk1 mutants. pag1 and cbk1 mutants share a common set of suppressors, including the disruption of SSD1, a gene encoding an RNA binding protein, and the overexpression of Sim1p, an extracellular protein. These genetic results suggest that PAG1 and CBK1 act in the same pathway. Furthermore, we found that Pag1p and Cbk1p localize to the same polarized peripheral sites and that they coimmunoprecipitate with each other. Pag1p is a conserved protein. The homologs of Pag1p in other organisms are likely to form complexes with the Cbk1p-related kinases and function with those kinases in the same biological processes.

show abstract

Section: A Pag1 Mutant Displays Morphogenesis Defects Similar To Thosmentioning

confidence: 99%

Pag1p, a Novel Protein Associated with Protein Kinase Cbk1p, Is Required for Cell Morphogenesis and Proliferation inSaccharomyces cerevisiae

Du¹,

Novick

2002

MBoC

101

140

View full text Add to dashboard Cite

show abstract

“…Mutation-specific breast and ovarian cancer phenotypes are also shown in Table 1. [16][17][18] on chromosome 13q12 were used for genotyping ( Figure 1). Primer sequences for markers D13S260 through D13S267 were positioned and marker order and physical distances were determined using Sequencher v3.0 (Gene Codes Corporation, Ann Arbor, MI, USA) and the genomic sequence 19 for this region.…”

Section: Mutations Studiedmentioning

confidence: 99%

Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland

et al. 2000

View full text Add to dashboard Cite

In the Finnish breast and ovarian cancer families six BRCA1 and five BRCA2 mutations have been found recurrently. Some of these recurrent mutations have also been seen elsewhere in the world, while others are exclusively of Finnish origin. A haplotype analysis of 26 Finnish families carrying a BRCA1 mutation and 20 families with a BRCA2 mutation indicated that the carriers of each recurrent mutation have common ancestors. The common ancestors were estimated to trace back to 7-36 generations (150-800 years). The time estimates and the geographical clustering of these founder mutations in Finland are in concordance with the population history of this country. Analysis of the cancer phenotypes showed differential ovarian cancer expression in families carrying mutations in the 5' and 3' ends of the BRCA1 gene, and earlier age of ovarian cancer onset in families with BRCA1 mutations compared with families with BRCA2 mutations. The identification of prominent and regional BRCA1 and BRCA2 founder mutations in Finland will have significant impact on diagnostics in Finnish breast and ovarian cancer families. An isolated population with known history and multiple local founder effects in multigenic disease may offer distinct advantages also for mapping novel predisposing genes.

show abstract

“…Twenty-four markers spanning 36 cM were used in genotyping of the Finnish families ( Figure 3). Primer sequences published in Couch et al 18 were used for markers D13S1694, D13S1695, D13S1696, D13S1697, D13S1698, D13S1699, D13S1701, and those for markers SLS320, SLS385, SLS165, SLS234, SLS163, SLS312, SLS321, SLS329, SLS886 were kindly provided by Dr Michael Stratton. Primers were designed for the intron 11 polymorphism (EX11) at nucleotide 7069 (+78) and are available on request.…”

Section: Genotypingmentioning

confidence: 99%

Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families

Barkardóttir¹,

Sarantaus

Arason

et al. 2001

Eur J Hum Genet

View full text Add to dashboard Cite

The 999del5 mutation is the single, strong BRCA2 founder mutation in Iceland and the most common BRCA1/2 founder mutation in Finland. To evaluate the origin and time since spreading of the 999del5 mutation in Iceland and in Finland, we constructed haplotypes with polymorphic markers within and flanking the BRCA2 gene in a set of 18 Icelandic and 10 Finnish 999del5 breast cancer families. All Icelandic families analysed shared a common core haplotype of about 1.7 cM. The common ancestors for the Icelandic families studied were estimated to trace back to 340 ± 1000 years, not excluding the possibility that the mutation was brought to Iceland during the settlement of the country. Analysis of the Finnish families revealed two distinct haplotypes. A rare one, found in three families in the old settlement region in southwestern Finland, shared a four-marker (0.5 cM) core haplotype with the Icelandic 999del5 haplotype. A distinct *6 cM haplotype was shared by seven 999del5 Finnish families estimated to have a common ancestry 140 ± 300 years ago. These families cluster in two geographical regions in Finland, in the very same area as those with the rare haplotype and also in the most eastern, late settlement region of Finland. The results may indicate a common ancient origin for the 999del5 mutation in Iceland and in Finland, but distinct mutational events cannot be ruled out. The surprising finding of the same mutation in two completely different haplotypes in a sparsely populated area in Finland may suggest gene conversion. European Journal of Human Genetics (2001) 9, 773 ± 779.

show abstract

Generation of an Integrated Transcription Map of theBRCA2Region on Chromosome 13q12–q13

Cited by 33 publications

References 3 publications

Pag1p, a Novel Protein Associated with Protein Kinase Cbk1p, Is Required for Cell Morphogenesis and Proliferation inSaccharomyces cerevisiae

Pag1p, a Novel Protein Associated with Protein Kinase Cbk1p, Is Required for Cell Morphogenesis and Proliferation inSaccharomyces cerevisiae

Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland

Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families

Contact Info

Product

Resources

About