Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster
Epidermolytic hyperkeratosis (EHK) is an autosomal dominant genodermatosis characterized by hyperkeratosis and blistering of the skin. Histopathology demonstrates suprabasilar blister formation with aggregation of tonofilaments. In this study, we tested the hypothesis that the EHK phenotype is linke...
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| Veröffentlicht in: | The Journal of clinical investigation 1993-01, Vol.91 (1), p.357-361 |
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| creator | Pulkkinen, L Christiano, A M Knowlton, R G Uitto, J |
| description | Epidermolytic hyperkeratosis (EHK) is an autosomal dominant genodermatosis characterized by hyperkeratosis and blistering of the skin. Histopathology demonstrates suprabasilar blister formation with aggregation of tonofilaments. In this study, we tested the hypothesis that the EHK phenotype is linked to one of the suprabasilar keratins (KRT10 or KRT1) present in the types I and II keratin gene clusters in chromosomes 17q and 12q, respectively. For this purpose, Southern hybridizations were performed with DNA from a large kindred with EHK, consisting of 11 affected individuals in three generations. Segregation analysis with markers flanking the keratin gene clusters demonstrated linkage (Z = 3.61 at theta = 0) to a locus on 12q, while markers on 17q were excluded. These data implicate KRT1, the type II keratin expressed in suprabasilar keratinocytes, as a candidate gene in this family with EHK. |
| doi_str_mv | 10.1172/JCI116193 |
| format | Article |
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For this purpose, Southern hybridizations were performed with DNA from a large kindred with EHK, consisting of 11 affected individuals in three generations. Segregation analysis with markers flanking the keratin gene clusters demonstrated linkage (Z = 3.61 at theta = 0) to a locus on 12q, while markers on 17q were excluded. These data implicate KRT1, the type II keratin expressed in suprabasilar keratinocytes, as a candidate gene in this family with EHK.</description><identifier>ISSN: 0021-9738</identifier><identifier>DOI: 10.1172/JCI116193</identifier><identifier>PMID: 7678607</identifier><language>eng</language><publisher>United States</publisher><subject>Blotting, Southern ; Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 12 ; DNA - blood ; DNA - genetics ; DNA - isolation & purification ; Female ; Genetic Linkage ; Humans ; Hyperkeratosis, Epidermolytic - blood ; Hyperkeratosis, Epidermolytic - genetics ; Hyperkeratosis, Epidermolytic - pathology ; Keratins - genetics ; Male ; Multigene Family ; Pedigree ; Restriction Mapping ; Skin - pathology</subject><ispartof>The Journal of clinical investigation, 1993-01, Vol.91 (1), p.357-361</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c400t-78a17f5573bd73e61eda4aefaad1d297f4f2be0b5bf7340ff50ad3adb60380343</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC330034/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC330034/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,728,781,785,886,27929,27930,53796,53798</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7678607$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Pulkkinen, L</creatorcontrib><creatorcontrib>Christiano, A M</creatorcontrib><creatorcontrib>Knowlton, R G</creatorcontrib><creatorcontrib>Uitto, J</creatorcontrib><title>Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster</title><title>The Journal of clinical investigation</title><addtitle>J Clin Invest</addtitle><description>Epidermolytic hyperkeratosis (EHK) is an autosomal dominant genodermatosis characterized by hyperkeratosis and blistering of the skin. Histopathology demonstrates suprabasilar blister formation with aggregation of tonofilaments. In this study, we tested the hypothesis that the EHK phenotype is linked to one of the suprabasilar keratins (KRT10 or KRT1) present in the types I and II keratin gene clusters in chromosomes 17q and 12q, respectively. For this purpose, Southern hybridizations were performed with DNA from a large kindred with EHK, consisting of 11 affected individuals in three generations. Segregation analysis with markers flanking the keratin gene clusters demonstrated linkage (Z = 3.61 at theta = 0) to a locus on 12q, while markers on 17q were excluded. These data implicate KRT1, the type II keratin expressed in suprabasilar keratinocytes, as a candidate gene in this family with EHK.</description><subject>Blotting, Southern</subject><subject>Child, Preschool</subject><subject>Chromosome Banding</subject><subject>Chromosomes, Human, Pair 12</subject><subject>DNA - blood</subject><subject>DNA - genetics</subject><subject>DNA - isolation & purification</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>Hyperkeratosis, Epidermolytic - blood</subject><subject>Hyperkeratosis, Epidermolytic - genetics</subject><subject>Hyperkeratosis, Epidermolytic - pathology</subject><subject>Keratins - genetics</subject><subject>Male</subject><subject>Multigene Family</subject><subject>Pedigree</subject><subject>Restriction Mapping</subject><subject>Skin - pathology</subject><issn>0021-9738</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkb1u2zAUhTmkSNI0Qx4gAKeiGZySIiXKQ4fCcFMXBrIkM0FRlxYbinRIKoAeJ29a-QdGO3UiiPPdcy7uQeiGkntKRfH112JFaUXn7AxdElLQ2Vyw-gJ9TOk3IZTzkp-jc1GJuiLiEr0vt7aF2Ac3ZqtxN24hvkBUOSSb8JdmcC4MCevgN-BtVg5b3eVunGQTYo8hjrmLYWeh7u7xA3jY-TjrX9QGcA5YT3IfUugB0-IVW49zBzjCxgaPg9n_8hSLVyu8T56IKQuwdkPKED-hD0a5BNfH9wo9_1g-LX7O1o8Pq8X39UxzQvJM1IoKU5aCNa1gUFFoFVdglGppW8yF4aZogDRlYwTjxJiSqJaptqkIqwnj7Ap9O_huh6aHVoPPUTm5jbZXcZRBWfmv4m0nN-FNMkYO85-P8zG8DpCy7G3S4JzyMJ1QirLkghb0vyCt6oLVdTWBdwdQx5BSBHNahhK561qeup7Y27-3P5HHotkfhVirtg</recordid><startdate>199301</startdate><enddate>199301</enddate><creator>Pulkkinen, L</creator><creator>Christiano, A M</creator><creator>Knowlton, R G</creator><creator>Uitto, J</creator><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>199301</creationdate><title>Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). 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Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster</atitle><jtitle>The Journal of clinical investigation</jtitle><addtitle>J Clin Invest</addtitle><date>1993-01</date><risdate>1993</risdate><volume>91</volume><issue>1</issue><spage>357</spage><epage>361</epage><pages>357-361</pages><issn>0021-9738</issn><abstract>Epidermolytic hyperkeratosis (EHK) is an autosomal dominant genodermatosis characterized by hyperkeratosis and blistering of the skin. Histopathology demonstrates suprabasilar blister formation with aggregation of tonofilaments. In this study, we tested the hypothesis that the EHK phenotype is linked to one of the suprabasilar keratins (KRT10 or KRT1) present in the types I and II keratin gene clusters in chromosomes 17q and 12q, respectively. For this purpose, Southern hybridizations were performed with DNA from a large kindred with EHK, consisting of 11 affected individuals in three generations. Segregation analysis with markers flanking the keratin gene clusters demonstrated linkage (Z = 3.61 at theta = 0) to a locus on 12q, while markers on 17q were excluded. These data implicate KRT1, the type II keratin expressed in suprabasilar keratinocytes, as a candidate gene in this family with EHK.</abstract><cop>United States</cop><pmid>7678607</pmid><doi>10.1172/JCI116193</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Blotting, Southern Child, Preschool Chromosome Banding Chromosomes, Human, Pair 12 DNA - blood DNA - genetics DNA - isolation & purification Female Genetic Linkage Humans Hyperkeratosis, Epidermolytic - blood Hyperkeratosis, Epidermolytic - genetics Hyperkeratosis, Epidermolytic - pathology Keratins - genetics Male Multigene Family Pedigree Restriction Mapping Skin - pathology |
| title | Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster |
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