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PMID: 1438246 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Homozygous deletions within human chromosome band 9p21 in melanoma.

Fountain JW, Karayiorgou M, Ernstoff MS, Kirkwood JM, Vlock DR, Titus-Ernstoff L, Bouchard B, Vijayasaradhi S, Houghton AN, Lahti J

Abstract

Genetic studies have implicated the early involvement of a gene on chromosome arm 9p in the development of cutaneous melanoma. We have performed loss-of-heterozygosity studies to confirm these original findings and identify the most frequently rearranged or deleted region of 9p. Eight markers were analyzed, including (from 9pter to proximal 9q) D9S33, the beta-interferon (IFNB1) locus, the alpha-interferon (IFNA) gene cluster, D9S126, D9S3, D9S19, the glycoprotein 4 beta-galactosyltransferase (GGTB2) gene, and the argininosuccinate synthetase pseudogene 3 (ASSP3). Two or more of these loci were found to be hemizygously reduced in 12 of 14 (86%) informative metastatic melanoma tumor and cell line DNAs, and homozygous deletions of the marker D9S126 were observed in 2 of 20 (10%) melanoma cell lines. These findings have resulted in the identification of a small critical region of 2-3 megabases on 9p21 in which a putative melanoma tumor-suppressor gene appears likely to reside. Several 9p candidate genes, including IFNB1, the IFNA gene cluster, GGTB2, and the tyrosinase-related protein (TYRP) locus, have all been eliminated as potential targets because they are located outside of the homozygously deleted regions.

Related Genes
MeSH Terms
Base Sequence Cell Line Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 9 DNA, Neoplasm/genetics,isolation & purification Genetic Markers Homozygote Humans Interferon-alpha/genetics Interferon-beta/genetics Melanoma/genetics,surgery Membrane Glycoproteins Molecular Sequence Data Multigene Family Oligodeoxyribonucleotides Oxidoreductases Polymerase Chain Reaction/methods Proteins/genetics beta-N-Acetylglucosaminylglycopeptide beta-1,4-Galactosyltransferase/genetics
Chemicals
DNA, Neoplasm Genetic Markers Interferon-alpha Membrane Glycoproteins Oligodeoxyribonucleotides Proteins Interferon-beta Oxidoreductases TYRP1 protein, human tyrosinase-related protein-1 beta-N-Acetylglucosaminylglycopeptide beta-1,4-Galactosyltransferase
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Fountain J W
Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139.
Karayiorgou M
Ernstoff M S
Kirkwood J M
Vlock D R
Titus-Ernstoff L
Bouchard B
Vijayasaradhi S
Houghton A N
Lahti J
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
Published
1992-11-01
Pages
10557-61
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC50378
Subset
IM
Grants
NCI NIH HHS · 1-F32-CA08985-01 · United States
NCI NIH HHS · CA56821 · United States
NHLBI NIH HHS · P01-HL41484 · United States
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