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      Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma.

      Nature genetics

      Base Sequence, Carrier Proteins, metabolism, Cyclin-Dependent Kinase 4, Cyclin-Dependent Kinase Inhibitor p16, Cyclin-Dependent Kinases, genetics, DNA Primers, chemistry, Female, Humans, Male, Melanoma, Molecular Sequence Data, Pedigree, Polymorphism, Single-Stranded Conformational, Proto-Oncogene Proteins

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          Most cited references 13

          • Record: found
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          p15INK4B is a potential effector of TGF-beta-induced cell cycle arrest.

           D Beach,  G Hannon (1994)
          Transforming growth factor-beta (TGF-beta) inhibits cell proliferation by inducing a G1-phase cell cycle arrest. Normal progression through G1 is promoted by the activity of the cyclin-dependent protein kinases CDK4 and CDK6 (ref. 2), which are inhibited by the protein p16INK4. We have isolated a new member of the p16INK4 family, p15INK4B. p15 expression is induced approximately 30-fold in human keratinocytes by treatment with TGF-beta, suggesting that p15 may act as an effector of TGF-beta-mediated cell cycle arrest. The gene encoding p15 is located on chromosome 9 adjacent to the p16 gene at a frequent site of chromosomal abnormality in human tumours (9p21).
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            • Record: found
            • Abstract: found
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            Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

            Multiple endocrine neoplasia type 2A (MEN 2A) is a dominantly inherited cancer syndrome that affects tissues derived from neural ectoderm. It is characterized by medullary thyroid carcinoma (MTC) and phaeochromocytoma. The MEN2A gene has recently been localized by a combination of genetic and physical mapping techniques to a 480-kilobase region in chromosome 10q11.2 (refs 2,3). The DNA segment encompasses the RET proto-oncogene, a receptor tyrosine kinase gene expressed in MTC and phaeochromocytoma and at lower levels in normal human thyroid. This suggested RET as a candidate for the MEN2A gene. We have identified missense mutations of the RET proto-oncogene in 20 of 23 apparently distinct MEN 2A families, but not in 23 normal controls. Further, 19 of these 20 mutations affect the same conserved cysteine residue at the boundary of the RET extracellular and transmembrane domains.
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              • Record: found
              • Abstract: found
              • Article: not found

              Germline p16 mutations in familial melanoma.

              The p16 gene is located in chromosome 9p21, a region that is linked to familial melanoma and homozygously deleted in many tumour cell lines. We describe eight p16 germline substitutions (one nonsense, one splice donor site and six missense) in 13/18 familial melanoma kindreds. Six of these mutations were identified in 33/36 melanoma cases in nine families, whereas two were detected in normal controls and are not disease-related. The melanoma-specific mutations were detected in 9p21-linked, but not in 1p36-linked, families, thereby confirming previous reports of genetic heterogeneity. Functional analyses of these mutations will confirm those causally related to the development of familial melanoma.
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                Author and article information

                Journal
                8528263
                10.1038/ng0196-97

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