A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family
The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumours, commonly astrocytoma. Germline deletions of the region on 9p21 containing the CDKN2A and CDKN2B genes and CDKN2A exon 1beta have been reported in kindreds, implicating contiguous tumour...
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| Veröffentlicht in: | Human molecular genetics 2001-01, Vol.10 (1), p.55-62 |
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| container_title | Human molecular genetics |
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| creator | Randerson-Moor, J A Harland, M Williams, S Cuthbert-Heavens, D Sheridan, E Aveyard, J Sibley, K Whitaker, L Knowles, M Bishop, J N Bishop, D T |
| description | The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumours, commonly astrocytoma. Germline deletions of the region on 9p21 containing the CDKN2A and CDKN2B genes and CDKN2A exon 1beta have been reported in kindreds, implicating contiguous tumour suppressor gene deletion as a cause of this syndrome. We describe a family characterized by multiple melanoma and neural cell tumours segregating with a germline deletion of the p14(ARF)-specific exon 1beta of the CDKN2A gene. This deletion does not affect the coding or minimal promoter sequences of either the CDKN2A or CDKN2B genes. Our results are consistent with either: (i) loss of p14(ARF) function being the critical abnormality associated with this syndrome, rather than contiguous loss of both the CDKN2A and CDKN2B genes as suggested previously; or (ii) disruption of expression of p16 by mechanisms as yet unknown. |
| doi_str_mv | 10.1093/hmg/10.1.55 |
| format | Article |
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Germline deletions of the region on 9p21 containing the CDKN2A and CDKN2B genes and CDKN2A exon 1beta have been reported in kindreds, implicating contiguous tumour suppressor gene deletion as a cause of this syndrome. We describe a family characterized by multiple melanoma and neural cell tumours segregating with a germline deletion of the p14(ARF)-specific exon 1beta of the CDKN2A gene. This deletion does not affect the coding or minimal promoter sequences of either the CDKN2A or CDKN2B genes. Our results are consistent with either: (i) loss of p14(ARF) function being the critical abnormality associated with this syndrome, rather than contiguous loss of both the CDKN2A and CDKN2B genes as suggested previously; or (ii) disruption of expression of p16 by mechanisms as yet unknown.</description><identifier>ISSN: 0964-6906</identifier><identifier>DOI: 10.1093/hmg/10.1.55</identifier><identifier>PMID: 11136714</identifier><language>eng</language><publisher>England</publisher><subject>Astrocytoma - genetics ; Base Sequence ; Brain Neoplasms - genetics ; Chromosome Mapping ; Chromosomes, Human, Pair 9 ; Cosmids ; Exons ; Family Health ; Female ; Gene Deletion ; Genes, p16 - genetics ; Germ-Line Mutation ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Melanoma - genetics ; Microsatellite Repeats ; Models, Genetic ; Molecular Sequence Data ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Promoter Regions, Genetic ; Proteins - genetics ; Restriction Mapping ; Tumor Suppressor Protein p14ARF</subject><ispartof>Human molecular genetics, 2001-01, Vol.10 (1), p.55-62</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11136714$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Randerson-Moor, J A</creatorcontrib><creatorcontrib>Harland, M</creatorcontrib><creatorcontrib>Williams, S</creatorcontrib><creatorcontrib>Cuthbert-Heavens, D</creatorcontrib><creatorcontrib>Sheridan, E</creatorcontrib><creatorcontrib>Aveyard, J</creatorcontrib><creatorcontrib>Sibley, K</creatorcontrib><creatorcontrib>Whitaker, L</creatorcontrib><creatorcontrib>Knowles, M</creatorcontrib><creatorcontrib>Bishop, J N</creatorcontrib><creatorcontrib>Bishop, D T</creatorcontrib><title>A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumours, commonly astrocytoma. Germline deletions of the region on 9p21 containing the CDKN2A and CDKN2B genes and CDKN2A exon 1beta have been reported in kindreds, implicating contiguous tumour suppressor gene deletion as a cause of this syndrome. We describe a family characterized by multiple melanoma and neural cell tumours segregating with a germline deletion of the p14(ARF)-specific exon 1beta of the CDKN2A gene. This deletion does not affect the coding or minimal promoter sequences of either the CDKN2A or CDKN2B genes. Our results are consistent with either: (i) loss of p14(ARF) function being the critical abnormality associated with this syndrome, rather than contiguous loss of both the CDKN2A and CDKN2B genes as suggested previously; or (ii) disruption of expression of p16 by mechanisms as yet unknown.</description><subject>Astrocytoma - genetics</subject><subject>Base Sequence</subject><subject>Brain Neoplasms - genetics</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 9</subject><subject>Cosmids</subject><subject>Exons</subject><subject>Family Health</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Genes, p16 - genetics</subject><subject>Germ-Line Mutation</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Male</subject><subject>Melanoma - genetics</subject><subject>Microsatellite Repeats</subject><subject>Models, Genetic</subject><subject>Molecular Sequence Data</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><subject>Promoter Regions, Genetic</subject><subject>Proteins - genetics</subject><subject>Restriction Mapping</subject><subject>Tumor Suppressor Protein p14ARF</subject><issn>0964-6906</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1ULFOwzAU9ACipTCxI08IhrR2nNjxGLUUEBVICObIiZ9LUBwHOx769wRRpruTTqe7Q-iKkiUlkq0-7X71y5d5foLmRPIs4ZLwGToP4YsQyjMmztCMUsq4oNkcqRLvwduu7QFr6GBsXY-dwQPNbsu37R2u44h7N-L15vklLXHbY4UtdKp3ViU9RK86HA5hBIvHaF30k-q1dxawUbbtDhfo1KguwOURF-hje_--fkx2rw9P63KXDCkRY5I2gnCldW5Y3QAROuXKKJoZ0uiilqyQhag5l0wXMueSZsBUrg3ILJW8YMAW6OYvd_DuO0IYK9uGBrqpKrgYKkFyMY1mk_H6aIy1BV0NvrXKH6r_U9gPfTxgPw</recordid><startdate>20010101</startdate><enddate>20010101</enddate><creator>Randerson-Moor, J A</creator><creator>Harland, M</creator><creator>Williams, S</creator><creator>Cuthbert-Heavens, D</creator><creator>Sheridan, E</creator><creator>Aveyard, J</creator><creator>Sibley, K</creator><creator>Whitaker, L</creator><creator>Knowles, M</creator><creator>Bishop, J N</creator><creator>Bishop, D T</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20010101</creationdate><title>A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family</title><author>Randerson-Moor, J A ; Harland, M ; Williams, S ; Cuthbert-Heavens, D ; Sheridan, E ; Aveyard, J ; Sibley, K ; Whitaker, L ; Knowles, M ; Bishop, J N ; Bishop, D T</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p207t-2c706add5f3bce07d26afa14f0cd8b938987b6693d8956914e3a5dfe9429683e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Astrocytoma - genetics</topic><topic>Base Sequence</topic><topic>Brain Neoplasms - genetics</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 9</topic><topic>Cosmids</topic><topic>Exons</topic><topic>Family Health</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Genes, p16 - genetics</topic><topic>Germ-Line Mutation</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Male</topic><topic>Melanoma - genetics</topic><topic>Microsatellite Repeats</topic><topic>Models, Genetic</topic><topic>Molecular Sequence Data</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Polymerase Chain Reaction</topic><topic>Promoter Regions, Genetic</topic><topic>Proteins - genetics</topic><topic>Restriction Mapping</topic><topic>Tumor Suppressor Protein p14ARF</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Randerson-Moor, J A</creatorcontrib><creatorcontrib>Harland, M</creatorcontrib><creatorcontrib>Williams, S</creatorcontrib><creatorcontrib>Cuthbert-Heavens, D</creatorcontrib><creatorcontrib>Sheridan, E</creatorcontrib><creatorcontrib>Aveyard, J</creatorcontrib><creatorcontrib>Sibley, K</creatorcontrib><creatorcontrib>Whitaker, L</creatorcontrib><creatorcontrib>Knowles, M</creatorcontrib><creatorcontrib>Bishop, J N</creatorcontrib><creatorcontrib>Bishop, D T</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Randerson-Moor, J A</au><au>Harland, M</au><au>Williams, S</au><au>Cuthbert-Heavens, D</au><au>Sheridan, E</au><au>Aveyard, J</au><au>Sibley, K</au><au>Whitaker, L</au><au>Knowles, M</au><au>Bishop, J N</au><au>Bishop, D T</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>2001-01-01</date><risdate>2001</risdate><volume>10</volume><issue>1</issue><spage>55</spage><epage>62</epage><pages>55-62</pages><issn>0964-6906</issn><abstract>The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumours, commonly astrocytoma. Germline deletions of the region on 9p21 containing the CDKN2A and CDKN2B genes and CDKN2A exon 1beta have been reported in kindreds, implicating contiguous tumour suppressor gene deletion as a cause of this syndrome. We describe a family characterized by multiple melanoma and neural cell tumours segregating with a germline deletion of the p14(ARF)-specific exon 1beta of the CDKN2A gene. This deletion does not affect the coding or minimal promoter sequences of either the CDKN2A or CDKN2B genes. Our results are consistent with either: (i) loss of p14(ARF) function being the critical abnormality associated with this syndrome, rather than contiguous loss of both the CDKN2A and CDKN2B genes as suggested previously; or (ii) disruption of expression of p16 by mechanisms as yet unknown.</abstract><cop>England</cop><pmid>11136714</pmid><doi>10.1093/hmg/10.1.55</doi><tpages>8</tpages></addata></record> |
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| ispartof | Human molecular genetics, 2001-01, Vol.10 (1), p.55-62 |
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| language | eng |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Astrocytoma - genetics Base Sequence Brain Neoplasms - genetics Chromosome Mapping Chromosomes, Human, Pair 9 Cosmids Exons Family Health Female Gene Deletion Genes, p16 - genetics Germ-Line Mutation Humans In Situ Hybridization, Fluorescence Male Melanoma - genetics Microsatellite Repeats Models, Genetic Molecular Sequence Data Pedigree Phenotype Polymerase Chain Reaction Promoter Regions, Genetic Proteins - genetics Restriction Mapping Tumor Suppressor Protein p14ARF |
| title | A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family |
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