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

Rozenblum, E ; Vahteristo, P ; Törngren, Therese LU ; Bergthorsson, JT ; Syrjakoski, K ; Weaver, D ; Haraldsson, Karin LU ; Johannsdottir, HK ; Vehmanen, P and Nigam, S , et al. (2002) In Human Genetics 110(2). p.111-121
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... (More)
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. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Genetics
volume
110
issue
2
pages
111 - 121
publisher
Springer
external identifiers
  • wos:000174691800001
  • pmid:11935316
  • scopus:0036487997
ISSN
1432-1203
DOI
10.1007/s00439-001-0646-6
language
English
LU publication?
yes
id
544cc04a-1060-45ed-932c-3d3d1ab30579 (old id 341108)
date added to LUP
2016-04-01 16:39:02
date last changed
2022-01-28 21:06:53
@article{544cc04a-1060-45ed-932c-3d3d1ab30579,
  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.}},
  author       = {{Rozenblum, E and Vahteristo, P and Törngren, Therese and Bergthorsson, JT and Syrjakoski, K and Weaver, D and Haraldsson, Karin and Johannsdottir, HK and Vehmanen, P and Nigam, S and Golberger, N and Robbins, C and Pak, E and Dutra, A and Gillander, E and Stephan, DA and Bailey-Wilson, J and Juo, SHH and Kainu, T and Arason, A and Barkardottir, RB and Nevanlinna, H and Borg, Åke and Kallioniemi, OP}},
  issn         = {{1432-1203}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{111--121}},
  publisher    = {{Springer}},
  series       = {{Human Genetics}},
  title        = {{A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes}},
  url          = {{http://dx.doi.org/10.1007/s00439-001-0646-6}},
  doi          = {{10.1007/s00439-001-0646-6}},
  volume       = {{110}},
  year         = {{2002}},
}