Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer
Copyright policy )Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer
The human DNA mismatch repair gene homologue hMSH2, on chromosome 2p is involved in hereditary non-polyposis colon cancer (HNPCC). On the basis of linkage data, a second HNPCC locus was assigned to chromosome 3p21-23 (ref. 3). Here we report that a human gene encoding a protein, hMLH1 (human MutL homologue), homologous to the bacterial DNA mismatch repair protein MutL, is located on human chromosome 3p21.3-23. We propose that hMLH1 is the HNPCC gene located on 3p because of the similarity of the hMLH1 gene product to the yeast DNA mismatch repair protein, MLH1, the coincident location of the hMLH1 gene and the HNPCC locus on chromosome 3, and hMLH1 missense mutations in affected individuals from a chromosome 3-linked HNPCC family.
- Yale University United States
- Karolinska Institute Sweden
- Harvard University United States
- Dana-Farber Cancer Institute United States
- Oregon Health & Science University United States
Polymorphism, Genetic, Base Sequence, DNA Repair, Molecular Sequence Data, Chromosome Mapping, Nuclear Proteins, DNA, Neoplasm, Hybrid Cells, Colorectal Neoplasms, Hereditary Nonpolyposis, Polymerase Chain Reaction, Neoplasm Proteins, Mutation, Animals, Humans, Amino Acid Sequence, Chromosomes, Human, Pair 3, Carrier Proteins, MutL Protein Homolog 1, Cells, Cultured, Adaptor Proteins, Signal Transducing
Polymorphism, Genetic, Base Sequence, DNA Repair, Molecular Sequence Data, Chromosome Mapping, Nuclear Proteins, DNA, Neoplasm, Hybrid Cells, Colorectal Neoplasms, Hereditary Nonpolyposis, Polymerase Chain Reaction, Neoplasm Proteins, Mutation, Animals, Humans, Amino Acid Sequence, Chromosomes, Human, Pair 3, Carrier Proteins, MutL Protein Homolog 1, Cells, Cultured, Adaptor Proteins, Signal Transducing
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