Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13
The recent completion of a reference sequence of the human genome now allows a complete characterization of the type II keratin gene domain on chromosome 12q13.13. This, domain, approximately 780 kb in size, is present on nine bacterial artificial chromosome clones sequenced by the Human Genome Sequ...
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Veröffentlicht in: | Journal of investigative dermatology 2005-03, Vol.124 (3), p.536-544 |
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description | The recent completion of a reference sequence of the human genome now allows a complete characterization of the type II keratin gene domain on chromosome 12q13.13. This, domain, approximately 780 kb in size, is present on nine bacterial artificial chromosome clones sequenced by the Human Genome Sequencing Project. The type II keratin domain contains 27 keratin genes and eight pseudogenes. Twenty-three of these genes and four pseudogenes have been previously reported. This study describes, in addition to the genomic sequencing of the K2p gene and the bioinformatic identification of four keratin pseudogenes, the characterization of cDNA corresponding to three previously undescribed keratin genes K1b, K6l, and Kb20, as well as cDNA sequences for the previously described keratin genes hHb2, hHb4, and K3. Northern analysis of the new keratins K1b, K6l, K5b, and Kb20 using mRNA of major organs as well as of specific epithelial subtypes shows singular expression of these keratins in skin, hair follicles and, for K5b and Kb20, in tongue, respectively. In addition, the obvious discrepancies between the current reference sequence of the human genome and the previously described gene/cDNA sequences for K6c, K6d, K6e, K6f, K6h are investigated, leading to the conclusion that K6c, K6d as well as K6e, K6f are probably polymorphic variants of K6a and K6h, respectively. All 26 human type II keratins found on this domain as well as K18, dtype 1 Keratin, are identified at the genomic and transcriptional level. This appears to be the total complement of functional type II keratins in humans. |
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This, domain, approximately 780 kb in size, is present on nine bacterial artificial chromosome clones sequenced by the Human Genome Sequencing Project. The type II keratin domain contains 27 keratin genes and eight pseudogenes. Twenty-three of these genes and four pseudogenes have been previously reported. This study describes, in addition to the genomic sequencing of the K2p gene and the bioinformatic identification of four keratin pseudogenes, the characterization of cDNA corresponding to three previously undescribed keratin genes K1b, K6l, and Kb20, as well as cDNA sequences for the previously described keratin genes hHb2, hHb4, and K3. Northern analysis of the new keratins K1b, K6l, K5b, and Kb20 using mRNA of major organs as well as of specific epithelial subtypes shows singular expression of these keratins in skin, hair follicles and, for K5b and Kb20, in tongue, respectively. In addition, the obvious discrepancies between the current reference sequence of the human genome and the previously described gene/cDNA sequences for K6c, K6d, K6e, K6f, K6h are investigated, leading to the conclusion that K6c, K6d as well as K6e, K6f are probably polymorphic variants of K6a and K6h, respectively. All 26 human type II keratins found on this domain as well as K18, dtype 1 Keratin, are identified at the genomic and transcriptional level. This appears to be the total complement of functional type II keratins in humans.</description><identifier>ISSN: 0022-202X</identifier><identifier>EISSN: 1523-1747</identifier><identifier>DOI: 10.1111/j.0022-202X.2004.23530.x</identifier><identifier>PMID: 15737194</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>cDNA ; Chromosomes, Human, Pair 12 ; Computational Biology ; DNA, Complementary ; epidermis ; Evolution, Molecular ; gene expression ; Genome, Human ; Humans ; Intermediate Filament Proteins - genetics ; keratin 6 ; Keratin-1 ; Keratin-20 ; Keratin-5 ; Keratins - genetics ; Keratins, Hair-Specific ; Molecular Sequence Data ; Multigene Family - genetics ; polymorphism ; Polymorphism, Genetic</subject><ispartof>Journal of investigative dermatology, 2005-03, Vol.124 (3), p.536-544</ispartof><rights>2005 The Society for Investigative Dermatology, Inc</rights><rights>Copyright Nature Publishing Group Mar 2005</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c546t-d5db08d223ff9f9eef7a69aace32205caa55f36f6a8187d1967df6a594b9b7113</citedby><cites>FETCH-LOGICAL-c546t-d5db08d223ff9f9eef7a69aace32205caa55f36f6a8187d1967df6a594b9b7113</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15737194$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rogers, Michael A.</creatorcontrib><creatorcontrib>Edler, Lutz</creatorcontrib><creatorcontrib>Winter, Hermelita</creatorcontrib><creatorcontrib>Langbein, Lutz</creatorcontrib><creatorcontrib>Beckmann, Iris</creatorcontrib><creatorcontrib>Schweizer, Jürgen</creatorcontrib><title>Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13</title><title>Journal of investigative dermatology</title><addtitle>J Invest Dermatol</addtitle><description>The recent completion of a reference sequence of the human genome now allows a complete characterization of the type II keratin gene domain on chromosome 12q13.13. This, domain, approximately 780 kb in size, is present on nine bacterial artificial chromosome clones sequenced by the Human Genome Sequencing Project. The type II keratin domain contains 27 keratin genes and eight pseudogenes. Twenty-three of these genes and four pseudogenes have been previously reported. This study describes, in addition to the genomic sequencing of the K2p gene and the bioinformatic identification of four keratin pseudogenes, the characterization of cDNA corresponding to three previously undescribed keratin genes K1b, K6l, and Kb20, as well as cDNA sequences for the previously described keratin genes hHb2, hHb4, and K3. Northern analysis of the new keratins K1b, K6l, K5b, and Kb20 using mRNA of major organs as well as of specific epithelial subtypes shows singular expression of these keratins in skin, hair follicles and, for K5b and Kb20, in tongue, respectively. In addition, the obvious discrepancies between the current reference sequence of the human genome and the previously described gene/cDNA sequences for K6c, K6d, K6e, K6f, K6h are investigated, leading to the conclusion that K6c, K6d as well as K6e, K6f are probably polymorphic variants of K6a and K6h, respectively. All 26 human type II keratins found on this domain as well as K18, dtype 1 Keratin, are identified at the genomic and transcriptional level. This appears to be the total complement of functional type II keratins in humans.</description><subject>cDNA</subject><subject>Chromosomes, Human, Pair 12</subject><subject>Computational Biology</subject><subject>DNA, Complementary</subject><subject>epidermis</subject><subject>Evolution, Molecular</subject><subject>gene expression</subject><subject>Genome, Human</subject><subject>Humans</subject><subject>Intermediate Filament Proteins - genetics</subject><subject>keratin 6</subject><subject>Keratin-1</subject><subject>Keratin-20</subject><subject>Keratin-5</subject><subject>Keratins - genetics</subject><subject>Keratins, Hair-Specific</subject><subject>Molecular Sequence Data</subject><subject>Multigene Family - genetics</subject><subject>polymorphism</subject><subject>Polymorphism, Genetic</subject><issn>0022-202X</issn><issn>1523-1747</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkctu1DAUhi0EosPAKyCLBbukvsS5LGF6G1FgUyR21ol9oskoiad2Ujq8Bi9cpzMqgk298e07v-XzEUI5S3kcp9uUMSESwcTPVDCWpUIqydL7F2TBlZAJL7LiJVk8QSfkTQhbxnieqfI1OeGqkAWvsgX5s9qABzOib3_D2LqBuoZ-w1_0K_Y1-jBvxw3Sq6mHgd7sd0jXa_oFfYQHeokD0gvo225PYbAUHk88dPT8DrrpKXBO-KfmzPUQ1_F2tfGud8H1SLm45TLl8i151UAX8N1xXpIfF-c3q6vk-vvlevXpOjEqy8fEKluz0gohm6ZqKsSmgLwCMCiFYMoAKNXIvMmh5GVheZUXNm5UldVVXXAul-TjIXfn3e2EYdR9Gwx2HQzopqDz2EUhJXsWjJ1kZZWrCH74D9y6yQ_xE1pwJlWhop0lKQ-Q8S4Ej43e-bYHv9ec6Vmv3urZnJ7N6VmvftSr72Pp-2P-VPdo_xYefUbg8wHA2Le7Fr0OpsXBoG09mlFb1z7_ygMJKbWT</recordid><startdate>20050301</startdate><enddate>20050301</enddate><creator>Rogers, Michael A.</creator><creator>Edler, Lutz</creator><creator>Winter, Hermelita</creator><creator>Langbein, Lutz</creator><creator>Beckmann, Iris</creator><creator>Schweizer, Jürgen</creator><general>Elsevier Inc</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</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>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7QL</scope><scope>C1K</scope><scope>7X8</scope></search><sort><creationdate>20050301</creationdate><title>Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13</title><author>Rogers, Michael A. ; 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This, domain, approximately 780 kb in size, is present on nine bacterial artificial chromosome clones sequenced by the Human Genome Sequencing Project. The type II keratin domain contains 27 keratin genes and eight pseudogenes. Twenty-three of these genes and four pseudogenes have been previously reported. This study describes, in addition to the genomic sequencing of the K2p gene and the bioinformatic identification of four keratin pseudogenes, the characterization of cDNA corresponding to three previously undescribed keratin genes K1b, K6l, and Kb20, as well as cDNA sequences for the previously described keratin genes hHb2, hHb4, and K3. Northern analysis of the new keratins K1b, K6l, K5b, and Kb20 using mRNA of major organs as well as of specific epithelial subtypes shows singular expression of these keratins in skin, hair follicles and, for K5b and Kb20, in tongue, respectively. In addition, the obvious discrepancies between the current reference sequence of the human genome and the previously described gene/cDNA sequences for K6c, K6d, K6e, K6f, K6h are investigated, leading to the conclusion that K6c, K6d as well as K6e, K6f are probably polymorphic variants of K6a and K6h, respectively. All 26 human type II keratins found on this domain as well as K18, dtype 1 Keratin, are identified at the genomic and transcriptional level. This appears to be the total complement of functional type II keratins in humans.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>15737194</pmid><doi>10.1111/j.0022-202X.2004.23530.x</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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subjects | cDNA Chromosomes, Human, Pair 12 Computational Biology DNA, Complementary epidermis Evolution, Molecular gene expression Genome, Human Humans Intermediate Filament Proteins - genetics keratin 6 Keratin-1 Keratin-20 Keratin-5 Keratins - genetics Keratins, Hair-Specific Molecular Sequence Data Multigene Family - genetics polymorphism Polymorphism, Genetic |
title | Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13 |
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