RGD Reference Report - The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers. - Rat Genome Database

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The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers.

Authors: Aberle, H  Bierkamp, C  Torchard, D  Serova, O  Wagner, T  Natt, E  Wirsching, J  Heidkamper, C  Montagna, M  Lynch, HT 
Citation: Aberle H, etal., Proc Natl Acad Sci U S A. 1995 Jul 3;92(14):6384-8.
RGD ID: 2291881
Pubmed: PMID:7604000   (View Abstract at PubMed)
PMCID: PMC41522   (View Article at PubMed Central)

The gene encoding human plakoglobin was mapped to chromosome 17q12-q22. An intragenic restriction fragment length polymorphism was used to localize the plakoglobin gene distal to locus KRT10 and proximal to the marker D17S858. The plakoglobin gene colocalizes with the polymorphic 17q21 marker UM8 on the same cosmid insert. This subregion of chromosome 17 is known to be particularly subjected to genetic alterations in sporadic breast and ovarian tumors. We show loss of heterozygosity of the plakoglobin gene in breast and ovarian tumors. We have identified a low-frequency polymorphism in the plakoglobin coding sequence which results in an arginine to histidine substitution at amino acid position 142 of the protein, as well as a silent mutation at nucleotide position 332 of the coding sequence. This polymorphism allowed us to demonstrate an allelic association of plakoglobin with predisposition to familial breast and ovarian cancers. Our results, together with the present knowledge about the biological function of plakoglobin, suggest that plakoglobin might represent a putative tumor suppressor gene for breast and ovarian cancers.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
JUPHumanBreast Neoplasms  IDA DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predispositionRGD 
JupRatBreast Neoplasms  ISOJUP (Homo sapiens) RGD 
JupMouseBreast Neoplasms  ISOJUP (Homo sapiens) RGD 
JUPHumanovarian cancer  IDA DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predispositionRGD 
JupRatovarian cancer  ISOJUP (Homo sapiens) RGD 
JupMouseovarian cancer  ISOJUP (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Jup  (junction plakoglobin)

Genes (Mus musculus)
Jup  (junction plakoglobin)

Genes (Homo sapiens)
JUP  (junction plakoglobin)


Additional Information