A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes

2.50
Hdl Handle:
http://hdl.handle.net/2336/32033
Title:
A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes
Authors:
Rozenblum, Ester; Vahteristo, Pia; Sandberg, Therese; Bergthorsson, Jon Thor; Syrjakoski, Kirsi; Weaver, Don; Haraldsson, Karin; Johannsdottir, Hrefna Kristin; Vehmanen, Paula; Nigam, Savita; Golberger, Natalie; Robbins, Christiane; Pak, Evgenia; Dutra, Amalia; Gillander, Elizabeth; Stephan, Dietrich A; Bailey-Wilson, Joan; Juo, Suh-Hang Hank; Kainu, Tommi; Arason, Adalgeir; Barkardottir, Rosa Bjork; Nevanlinna, Heli; Borg, Ake; Kallioniemi, Olli-P
Citation:
Hum. Genet. 2002, 110(2):111-21
Issue Date:
1-Feb-2002
Abstract:
Chromosomal region 13q21-q22 harbors a putative breast cancer susceptibility gene and has been implicated as a common site for somatic deletions in a variety of malignant tumors. We have built a complete physical clone contig for a region between D13S1308 and AFM220YE9 based on 18 yeast artificial chromosome and 81 bacterial artificial chromosome (BAC) clones linked together by 22 genetic markers and 61 other sequence tagged sites. Combining data from 47 sequenced BACs (as of June 2001), we have assembled in silico an integrated 5.7-Mb genomic map with 90% sequence coverage. This area contains eight known genes, two hypothetical proteins, 24 additional Unigene clusters, and approximately 100 predicted genes and exons. We have determined the cDNA and genomic sequence, and tissue expression profiles for the KIAA1008 protein (homologous to the yeast mitotic control protein dis3+), KLF12 (AP-2 repressor), progesterone induced blocking factor 1, zinc finger transcription factor KLF5, and LIM domain only-7, and for the hypothetical proteins FLJ22624 and FLJ21869. Mutation screening of the five known genes in 19 breast cancer families has revealed numerous polymorphisms, but no deleterious mutations. These data provide a basis and resources for further analyses of this chromosomal region in the development of cancer.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://www.springerlink.com/content/jlpqa0x23f25tma6

Full metadata record

DC FieldValue Language
dc.contributor.authorRozenblum, Ester-
dc.contributor.authorVahteristo, Pia-
dc.contributor.authorSandberg, Therese-
dc.contributor.authorBergthorsson, Jon Thor-
dc.contributor.authorSyrjakoski, Kirsi-
dc.contributor.authorWeaver, Don-
dc.contributor.authorHaraldsson, Karin-
dc.contributor.authorJohannsdottir, Hrefna Kristin-
dc.contributor.authorVehmanen, Paula-
dc.contributor.authorNigam, Savita-
dc.contributor.authorGolberger, Natalie-
dc.contributor.authorRobbins, Christiane-
dc.contributor.authorPak, Evgenia-
dc.contributor.authorDutra, Amalia-
dc.contributor.authorGillander, Elizabeth-
dc.contributor.authorStephan, Dietrich A-
dc.contributor.authorBailey-Wilson, Joan-
dc.contributor.authorJuo, Suh-Hang Hank-
dc.contributor.authorKainu, Tommi-
dc.contributor.authorArason, Adalgeir-
dc.contributor.authorBarkardottir, Rosa Bjork-
dc.contributor.authorNevanlinna, Heli-
dc.contributor.authorBorg, Ake-
dc.contributor.authorKallioniemi, Olli-P-
dc.date.accessioned2008-07-15T13:24:01Z-
dc.date.available2008-07-15T13:24:01Z-
dc.date.issued2002-02-01-
dc.date.submitted2008-07-15-
dc.identifier.citationHum. Genet. 2002, 110(2):111-21en
dc.identifier.issn0340-6717-
dc.identifier.pmid11935316-
dc.identifier.doi10.1007/s00439-001-0646-6-
dc.identifier.urihttp://hdl.handle.net/2336/32033-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractChromosomal region 13q21-q22 harbors a putative breast cancer susceptibility gene and has been implicated as a common site for somatic deletions in a variety of malignant tumors. We have built a complete physical clone contig for a region between D13S1308 and AFM220YE9 based on 18 yeast artificial chromosome and 81 bacterial artificial chromosome (BAC) clones linked together by 22 genetic markers and 61 other sequence tagged sites. Combining data from 47 sequenced BACs (as of June 2001), we have assembled in silico an integrated 5.7-Mb genomic map with 90% sequence coverage. This area contains eight known genes, two hypothetical proteins, 24 additional Unigene clusters, and approximately 100 predicted genes and exons. We have determined the cDNA and genomic sequence, and tissue expression profiles for the KIAA1008 protein (homologous to the yeast mitotic control protein dis3+), KLF12 (AP-2 repressor), progesterone induced blocking factor 1, zinc finger transcription factor KLF5, and LIM domain only-7, and for the hypothetical proteins FLJ22624 and FLJ21869. Mutation screening of the five known genes in 19 breast cancer families has revealed numerous polymorphisms, but no deleterious mutations. These data provide a basis and resources for further analyses of this chromosomal region in the development of cancer.en
dc.language.isoenen
dc.publisherSpringer Verlagen
dc.relation.urlhttp://www.springerlink.com/content/jlpqa0x23f25tma6en
dc.subject.meshBase Sequenceen
dc.subject.meshBreast Neoplasmsen
dc.subject.meshChromosome Mappingen
dc.subject.meshChromosomes, Human, Pair 13en
dc.subject.meshCloning, Molecularen
dc.subject.meshDNA Primersen
dc.subject.meshDNA, Complementaryen
dc.subject.meshExonsen
dc.subject.meshFemaleen
dc.subject.meshFinlanden
dc.subject.meshGenes, BRCA1en
dc.subject.meshGenes, BRCA2en
dc.subject.meshGenetic Markersen
dc.subject.meshHomeodomain Proteinsen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshIn Situ Hybridization, Fluorescenceen
dc.subject.meshIntronsen
dc.subject.meshKruppel-Like Transcription Factorsen
dc.subject.meshMolecular Sequence Dataen
dc.subject.meshPolymerase Chain Reactionen
dc.subject.meshSwedenen
dc.subject.meshTranscription Factorsen
dc.subject.meshTranscription, Geneticen
dc.subject.meshZinc Fingersen
dc.titleA genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genesen
dc.typeArticleen
dc.contributor.departmentCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.en
dc.identifier.journalHuman geneticsen

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