Loss of heterozygosity identifies multiple sites of allelic deletions on chromosome 1 in human male germ cell tumors. 1994

S Mathew, and V V Murty, and G J Bosl, and R S Chaganti
Cell Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York 10021.

Cytogenetic analysis of human male germ cell tumors (GCTs) and derived cell lines revealed frequent deletions and rearrangements of chromosome 1. However, no detailed molecular analysis of these aberrations has thus far been performed. We undertook loss of heterozygosity (LOH) analysis utilizing a panel of 48 GCTs at 22 subregionally mapped polymorphic loci on both arms of chromosome 1. Eight probes, for which precise mapping data were unavailable, were subregionally mapped to specific regions by fluorescence in situ hybridization. Allelic losses were observed in 46% of cases on 1p and in 23% of cases on 1q. Teratomas showed higher frequency of allelic losses compared to embryonal carcinomas, yolk sac tumors, and seminomas, consistent with the results of our previous allelotype analysis, which showed overall higher genetic loss in teratomas compared to embryonal carcinomas. Our LOH study of chromosome 1 identified 4 sites of frequent deletions, 3 in the short arm (1p13, 1p22, and 1p31.3-32.2) and 1 in the long arm (1q32). Of these, 38.5% LOH at 1p22 (D1S16) identifies the site of a novel candidate tumor suppressor gene (TSG), possibly associated with GCTs. LOH at the remaining sites (1p13, 1p31.3-32.2, and 1q32) has also been reported in breast carcinomas, suggesting the involvement of TSGs common to both tumor types.

UI MeSH Term Description Entries
D008297 Male Males
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002878 Chromosomes, Human, Pair 1 A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. Chromosome 1
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D018237 Germinoma A malignant neoplasm of the germinal tissue of the GONADS; MEDIASTINUM; or pineal region. Germinomas are uniform in appearance, consisting of large, round cells with vesicular nuclei and clear or finely granular eosinophilic-staining cytoplasm. (Stedman, 265th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1642-3) Germinomas

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