Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression
Tylosis (focal non-epidermolytic palmoplantar keratoderma) is an autosomal dominant skin disorder that is associated with the early onset of squamous cell oesophageal cancer (SCOC) in three families. Our previous linkage and haplotype analyses have mapped the tylosis with oesophageal cancer (TOC) lo...
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| Veröffentlicht in: | Human molecular genetics 2006-04, Vol.15 (8), p.1271-1277 |
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| container_title | Human molecular genetics |
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| creator | McRonald, Fiona E. Liloglou, Triantafillos Xinarianos, George Hill, Laura Rowbottom, Lynn Langan, Joanne E. Ellis, Anthony Shaw, Joan M. Field, John K. Risk, Janet M. |
| description | Tylosis (focal non-epidermolytic palmoplantar keratoderma) is an autosomal dominant skin disorder that is associated with the early onset of squamous cell oesophageal cancer (SCOC) in three families. Our previous linkage and haplotype analyses have mapped the tylosis with oesophageal cancer (TOC) locus to a 42.5 kb region on chromosome 17q25 that has also been implicated in the aetiology of sporadically occurring SCOC from a number of different geographical populations. Oesophageal cancer is one of the 10 leading causes of cancer mortality worldwide. No inherited disease-causing mutations have been identified in the genes located in the 42.5 kb minimal region. We now show that cytoglobin gene expression in oesophageal biopsies from tylotic patients is dramatically reduced by approximately 70% compared with normal oesophagus. Furthermore, both alleles are equally repressed. Given the autosomal dominant nature of the disease, these results exclude haploinsufficiency as a mechanism of the disease and instead suggest a novel trans-allele interaction. We also show that the promoter is hypermethylated in sporadic oesophageal cancer samples: this may constitute the ‘second hit’ of a gene previously implicated in this disease by allelic imbalance studies. |
| doi_str_mv | 10.1093/hmg/ddl042 |
| format | Article |
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Our previous linkage and haplotype analyses have mapped the tylosis with oesophageal cancer (TOC) locus to a 42.5 kb region on chromosome 17q25 that has also been implicated in the aetiology of sporadically occurring SCOC from a number of different geographical populations. Oesophageal cancer is one of the 10 leading causes of cancer mortality worldwide. No inherited disease-causing mutations have been identified in the genes located in the 42.5 kb minimal region. We now show that cytoglobin gene expression in oesophageal biopsies from tylotic patients is dramatically reduced by approximately 70% compared with normal oesophagus. Furthermore, both alleles are equally repressed. Given the autosomal dominant nature of the disease, these results exclude haploinsufficiency as a mechanism of the disease and instead suggest a novel trans-allele interaction. We also show that the promoter is hypermethylated in sporadic oesophageal cancer samples: this may constitute the ‘second hit’ of a gene previously implicated in this disease by allelic imbalance studies.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/ddl042</identifier><identifier>PMID: 16510494</identifier><identifier>CODEN: HNGEE5</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Allelic Imbalance ; Biological and medical sciences ; Cell Line, Tumor ; Chromosomes, Human, Pair 17 ; Down-Regulation ; Esophageal Neoplasms - genetics ; Esophageal Neoplasms - metabolism ; Esophageal Neoplasms - pathology ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Expression Profiling ; Genetics of eukaryotes. 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Mol. Genet</addtitle><description>Tylosis (focal non-epidermolytic palmoplantar keratoderma) is an autosomal dominant skin disorder that is associated with the early onset of squamous cell oesophageal cancer (SCOC) in three families. Our previous linkage and haplotype analyses have mapped the tylosis with oesophageal cancer (TOC) locus to a 42.5 kb region on chromosome 17q25 that has also been implicated in the aetiology of sporadically occurring SCOC from a number of different geographical populations. Oesophageal cancer is one of the 10 leading causes of cancer mortality worldwide. No inherited disease-causing mutations have been identified in the genes located in the 42.5 kb minimal region. We now show that cytoglobin gene expression in oesophageal biopsies from tylotic patients is dramatically reduced by approximately 70% compared with normal oesophagus. Furthermore, both alleles are equally repressed. Given the autosomal dominant nature of the disease, these results exclude haploinsufficiency as a mechanism of the disease and instead suggest a novel trans-allele interaction. We also show that the promoter is hypermethylated in sporadic oesophageal cancer samples: this may constitute the ‘second hit’ of a gene previously implicated in this disease by allelic imbalance studies.</description><subject>Allelic Imbalance</subject><subject>Biological and medical sciences</subject><subject>Cell Line, Tumor</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Down-Regulation</subject><subject>Esophageal Neoplasms - genetics</subject><subject>Esophageal Neoplasms - metabolism</subject><subject>Esophageal Neoplasms - pathology</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Expression Profiling</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Globins - genetics</subject><subject>Globins - metabolism</subject><subject>Humans</subject><subject>Keratoderma, Palmoplantar, Diffuse - genetics</subject><subject>Keratoderma, Palmoplantar, Diffuse - metabolism</subject><subject>Male</subject><subject>Molecular and cellular biology</subject><subject>Sequence Analysis, DNA</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0d1qFDEUB_Agil2rNz6ABKGi0rHJ5GvGO1mtKxR6s4J4EzLJmd2p2ck2yVj3DXxss-xiwRuvEnJ-nMPJH6HnlLyjpGUX683qwjlPeP0AzSiXpKpJwx6iGWklr2RL5Al6ktINIVRyph6jEyoFJbzlM_T7Y7gbqwiryZs8hBGHHuc1YLvLYeVDN4x4BSOcYx-syeBwIVTd1uIcl1Le-ZCGhO-GvMYBUtiuzQqMx9aMFiJ-vbyev3mP4efgoDzgPkScoxlTZbwHDzjCNkJKZfBT9Kg3PsGz43mKvl5-Ws4X1dX15y_zD1eV5VzlqmNWUuWYJRRcL_cX6AwVtQIGrms6SwThnWiFZM72xCgwjFMLZfOmdZKdoleHvtsYbidIWW-GZMF7M0KYkpaqqZmU7L-QKlqLhvMCX_4Db8IUx7KErillpLj92LcHZGNIKUKvt3HYmLjTlOh9irqkqA8pFvzi2HHqNuDu6TG2As6OwCRrfF--1A7p3ilFCJdNcdXBDSnDr791E3-UPZkSevHtu1aiuVwS0egF-wNLp7TZ</recordid><startdate>20060415</startdate><enddate>20060415</enddate><creator>McRonald, Fiona E.</creator><creator>Liloglou, Triantafillos</creator><creator>Xinarianos, George</creator><creator>Hill, Laura</creator><creator>Rowbottom, Lynn</creator><creator>Langan, Joanne E.</creator><creator>Ellis, Anthony</creator><creator>Shaw, Joan M.</creator><creator>Field, John K.</creator><creator>Risk, Janet M.</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20060415</creationdate><title>Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression</title><author>McRonald, Fiona E. ; Liloglou, Triantafillos ; Xinarianos, George ; Hill, Laura ; Rowbottom, Lynn ; Langan, Joanne E. ; Ellis, Anthony ; Shaw, Joan M. ; Field, John K. ; Risk, Janet M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c447t-b3c617d3c01edf6d3c0eba1527e3edb8bc0504b59563dcf0a7ea341ce64389d63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Allelic Imbalance</topic><topic>Biological and medical sciences</topic><topic>Cell Line, Tumor</topic><topic>Chromosomes, Human, Pair 17</topic><topic>Down-Regulation</topic><topic>Esophageal Neoplasms - genetics</topic><topic>Esophageal Neoplasms - metabolism</topic><topic>Esophageal Neoplasms - pathology</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Expression Profiling</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Globins - genetics</topic><topic>Globins - metabolism</topic><topic>Humans</topic><topic>Keratoderma, Palmoplantar, Diffuse - genetics</topic><topic>Keratoderma, Palmoplantar, Diffuse - metabolism</topic><topic>Male</topic><topic>Molecular and cellular biology</topic><topic>Sequence Analysis, DNA</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>McRonald, Fiona E.</creatorcontrib><creatorcontrib>Liloglou, Triantafillos</creatorcontrib><creatorcontrib>Xinarianos, George</creatorcontrib><creatorcontrib>Hill, Laura</creatorcontrib><creatorcontrib>Rowbottom, Lynn</creatorcontrib><creatorcontrib>Langan, Joanne E.</creatorcontrib><creatorcontrib>Ellis, Anthony</creatorcontrib><creatorcontrib>Shaw, Joan M.</creatorcontrib><creatorcontrib>Field, John K.</creatorcontrib><creatorcontrib>Risk, Janet M.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>McRonald, Fiona E.</au><au>Liloglou, Triantafillos</au><au>Xinarianos, George</au><au>Hill, Laura</au><au>Rowbottom, Lynn</au><au>Langan, Joanne E.</au><au>Ellis, Anthony</au><au>Shaw, Joan M.</au><au>Field, John K.</au><au>Risk, Janet M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum. Mol. Genet</addtitle><date>2006-04-15</date><risdate>2006</risdate><volume>15</volume><issue>8</issue><spage>1271</spage><epage>1277</epage><pages>1271-1277</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><coden>HNGEE5</coden><abstract>Tylosis (focal non-epidermolytic palmoplantar keratoderma) is an autosomal dominant skin disorder that is associated with the early onset of squamous cell oesophageal cancer (SCOC) in three families. Our previous linkage and haplotype analyses have mapped the tylosis with oesophageal cancer (TOC) locus to a 42.5 kb region on chromosome 17q25 that has also been implicated in the aetiology of sporadically occurring SCOC from a number of different geographical populations. Oesophageal cancer is one of the 10 leading causes of cancer mortality worldwide. No inherited disease-causing mutations have been identified in the genes located in the 42.5 kb minimal region. We now show that cytoglobin gene expression in oesophageal biopsies from tylotic patients is dramatically reduced by approximately 70% compared with normal oesophagus. Furthermore, both alleles are equally repressed. Given the autosomal dominant nature of the disease, these results exclude haploinsufficiency as a mechanism of the disease and instead suggest a novel trans-allele interaction. We also show that the promoter is hypermethylated in sporadic oesophageal cancer samples: this may constitute the ‘second hit’ of a gene previously implicated in this disease by allelic imbalance studies.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>16510494</pmid><doi>10.1093/hmg/ddl042</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Oxford University Press Journals All Titles (1996-Current); EZB-FREE-00999 freely available EZB journals |
| subjects | Allelic Imbalance Biological and medical sciences Cell Line, Tumor Chromosomes, Human, Pair 17 Down-Regulation Esophageal Neoplasms - genetics Esophageal Neoplasms - metabolism Esophageal Neoplasms - pathology Female Fundamental and applied biological sciences. Psychology Gene Expression Profiling Genetics of eukaryotes. Biological and molecular evolution Globins - genetics Globins - metabolism Humans Keratoderma, Palmoplantar, Diffuse - genetics Keratoderma, Palmoplantar, Diffuse - metabolism Male Molecular and cellular biology Sequence Analysis, DNA |
| title | Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression |
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