Elucidation of the Sequence and the Genomic Organization of the Human Dentin Matrix Acidic Phosphoprotein 1 (DMP1) Gene: Exclusion of the Locus from a Causative Role in the Pathogenesis of Dentinogenesis Imperfecta Type II
The dentin matrix acidic phosphoprotein 1 (DMP1) gene has been mapped to human chromosome 4q21 and shown to exhibit no recombination with the autosomal dominant disorder of dentin formation, dentinogenesis imperfecta type II. In the current study, sequencing of DMP1 cDNA and genomic clones has indic...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 1997-05, Vol.42 (1), p.38-45 |
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| creator | Hirst, Karen L. Simmons, Darrin Feng, Jian Aplin, Helen Dixon, Michael J. Macdougall, Mary |
| description | The dentin matrix acidic phosphoprotein 1 (DMP1) gene has been mapped to human chromosome 4q21 and shown to exhibit no recombination with the autosomal dominant disorder of dentin formation, dentinogenesis imperfecta type II. In the current study, sequencing of DMP1 cDNA and genomic clones has indicated that the human gene contains an open reading frame of 1539 bp, which predicts a highly acidic, serine-rich protein of 513 amino acids. Comparison of the human DMP1-coding sequence with that of the rat, mouse, and cow indicated that the predicted protein contains a conserved hydrophobic signal peptide sequence and an Arg-Gly-Asp cell attachment sequence. The gene is encoded by six exons, the splicing phase of which is type 0, the first exon containing solely 5′ untranslated sequence. Sequencing of each of the coding exons in individuals affected by dentinogenesis imperfecta type II failed to reveal any disease-specific mutations, suggesting that mutations in DMP1 are not causative of this condition at least in the two families examined in this study. |
| doi_str_mv | 10.1006/geno.1997.4700 |
| format | Article |
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In the current study, sequencing of DMP1 cDNA and genomic clones has indicated that the human gene contains an open reading frame of 1539 bp, which predicts a highly acidic, serine-rich protein of 513 amino acids. Comparison of the human DMP1-coding sequence with that of the rat, mouse, and cow indicated that the predicted protein contains a conserved hydrophobic signal peptide sequence and an Arg-Gly-Asp cell attachment sequence. The gene is encoded by six exons, the splicing phase of which is type 0, the first exon containing solely 5′ untranslated sequence. Sequencing of each of the coding exons in individuals affected by dentinogenesis imperfecta type II failed to reveal any disease-specific mutations, suggesting that mutations in DMP1 are not causative of this condition at least in the two families examined in this study.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1006/geno.1997.4700</identifier><identifier>PMID: 9177774</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Amino Acid Sequence ; Animals ; Base Sequence ; Biological and medical sciences ; Cattle ; Dentinogenesis Imperfecta - classification ; Dentinogenesis Imperfecta - etiology ; Dentinogenesis Imperfecta - genetics ; DNA Primers - genetics ; DNA, Complementary - genetics ; Exons ; Extracellular Matrix Proteins ; Fundamental and applied biological sciences. Psychology ; Genes. Genome ; Humans ; Mice ; Molecular and cellular biology ; Molecular genetics ; Molecular Sequence Data ; Mutation ; Phosphoproteins - genetics ; Polymerase Chain Reaction ; Protein Sorting Signals - genetics ; Rats ; Sequence Homology, Amino Acid ; Species Specificity</subject><ispartof>Genomics (San Diego, Calif.), 1997-05, Vol.42 (1), p.38-45</ispartof><rights>1997 Academic Press</rights><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c465t-5199c3077fa0a903ff488a18a41661c3e0537ad4184c14276da9ec971c5d63e63</citedby><cites>FETCH-LOGICAL-c465t-5199c3077fa0a903ff488a18a41661c3e0537ad4184c14276da9ec971c5d63e63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0888754397947005$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3536,27903,27904,65309</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2682782$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9177774$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hirst, Karen L.</creatorcontrib><creatorcontrib>Simmons, Darrin</creatorcontrib><creatorcontrib>Feng, Jian</creatorcontrib><creatorcontrib>Aplin, Helen</creatorcontrib><creatorcontrib>Dixon, Michael J.</creatorcontrib><creatorcontrib>Macdougall, Mary</creatorcontrib><title>Elucidation of the Sequence and the Genomic Organization of the Human Dentin Matrix Acidic Phosphoprotein 1 (DMP1) Gene: Exclusion of the Locus from a Causative Role in the Pathogenesis of Dentinogenesis Imperfecta Type II</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>The dentin matrix acidic phosphoprotein 1 (DMP1) gene has been mapped to human chromosome 4q21 and shown to exhibit no recombination with the autosomal dominant disorder of dentin formation, dentinogenesis imperfecta type II. In the current study, sequencing of DMP1 cDNA and genomic clones has indicated that the human gene contains an open reading frame of 1539 bp, which predicts a highly acidic, serine-rich protein of 513 amino acids. Comparison of the human DMP1-coding sequence with that of the rat, mouse, and cow indicated that the predicted protein contains a conserved hydrophobic signal peptide sequence and an Arg-Gly-Asp cell attachment sequence. The gene is encoded by six exons, the splicing phase of which is type 0, the first exon containing solely 5′ untranslated sequence. Sequencing of each of the coding exons in individuals affected by dentinogenesis imperfecta type II failed to reveal any disease-specific mutations, suggesting that mutations in DMP1 are not causative of this condition at least in the two families examined in this study.</description><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Cattle</subject><subject>Dentinogenesis Imperfecta - classification</subject><subject>Dentinogenesis Imperfecta - etiology</subject><subject>Dentinogenesis Imperfecta - genetics</subject><subject>DNA Primers - genetics</subject><subject>DNA, Complementary - genetics</subject><subject>Exons</subject><subject>Extracellular Matrix Proteins</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes. Genome</subject><subject>Humans</subject><subject>Mice</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Phosphoproteins - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Protein Sorting Signals - genetics</subject><subject>Rats</subject><subject>Sequence Homology, Amino Acid</subject><subject>Species Specificity</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFksFu1DAQhiMEKkvhyg3JB4TgkMVOHNvhVm2XdqWtuoJytgZn0jVK7MVOqpaH5Vlw2NUKDghfLM18849nfmfZS0bnjFLx_hadn7O6lnMuKX2UzRhVda4EF4-zGVVK5bLi5dPsWYzfKKV1qYqT7KRmMh0-y34uu9HYBgbrHfEtGbZIPuP3EZ1BAq75HbhIPXpryHW4BWd__AVfjj04co5usI5cwRDsPTlLignfbH3cbf0u-AFTkpG351cb9m6Sww9keW-6Mf6htPZmjKQNvidAFjDG1OcOySffIUnlE7KBYevTxBhtnMr2bY-RVb_D0KIZgNw87JCsVs-zJy10EV8c7tPsy8flzeIyX19frBZn69xwUQ15lRZoSiplCxRqWrYtVwqYAs6EYKZEWpUSGs4UN4wXUjRQo6klM1UjShTlafZmr5uGTcuLg-5tNNh14NCPUcs6KdSs_C_IBOWUcpbA-R40wccYsNW7YHsID5pRPTmvJ-f15LyenE8Frw7K49cemyN-sDrlXx_yEA10bQBnbDxihVCFVEXC1B7DtK47i0FHY6ff0NiQNqsbb__1gl_oast4</recordid><startdate>19970515</startdate><enddate>19970515</enddate><creator>Hirst, Karen L.</creator><creator>Simmons, Darrin</creator><creator>Feng, Jian</creator><creator>Aplin, Helen</creator><creator>Dixon, Michael J.</creator><creator>Macdougall, Mary</creator><general>Elsevier Inc</general><general>Elsevier</general><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>7TM</scope><scope>7X8</scope></search><sort><creationdate>19970515</creationdate><title>Elucidation of the Sequence and the Genomic Organization of the Human Dentin Matrix Acidic Phosphoprotein 1 (DMP1) Gene: Exclusion of the Locus from a Causative Role in the Pathogenesis of Dentinogenesis Imperfecta Type II</title><author>Hirst, Karen L. ; Simmons, Darrin ; Feng, Jian ; Aplin, Helen ; Dixon, Michael J. ; Macdougall, Mary</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c465t-5199c3077fa0a903ff488a18a41661c3e0537ad4184c14276da9ec971c5d63e63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Cattle</topic><topic>Dentinogenesis Imperfecta - classification</topic><topic>Dentinogenesis Imperfecta - etiology</topic><topic>Dentinogenesis Imperfecta - genetics</topic><topic>DNA Primers - genetics</topic><topic>DNA, Complementary - genetics</topic><topic>Exons</topic><topic>Extracellular Matrix Proteins</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genes. Genome</topic><topic>Humans</topic><topic>Mice</topic><topic>Molecular and cellular biology</topic><topic>Molecular genetics</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Phosphoproteins - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Protein Sorting Signals - genetics</topic><topic>Rats</topic><topic>Sequence Homology, Amino Acid</topic><topic>Species Specificity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hirst, Karen L.</creatorcontrib><creatorcontrib>Simmons, Darrin</creatorcontrib><creatorcontrib>Feng, Jian</creatorcontrib><creatorcontrib>Aplin, Helen</creatorcontrib><creatorcontrib>Dixon, Michael J.</creatorcontrib><creatorcontrib>Macdougall, Mary</creatorcontrib><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>Nucleic Acids Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hirst, Karen L.</au><au>Simmons, Darrin</au><au>Feng, Jian</au><au>Aplin, Helen</au><au>Dixon, Michael J.</au><au>Macdougall, Mary</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Elucidation of the Sequence and the Genomic Organization of the Human Dentin Matrix Acidic Phosphoprotein 1 (DMP1) Gene: Exclusion of the Locus from a Causative Role in the Pathogenesis of Dentinogenesis Imperfecta Type II</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1997-05-15</date><risdate>1997</risdate><volume>42</volume><issue>1</issue><spage>38</spage><epage>45</epage><pages>38-45</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>The dentin matrix acidic phosphoprotein 1 (DMP1) gene has been mapped to human chromosome 4q21 and shown to exhibit no recombination with the autosomal dominant disorder of dentin formation, dentinogenesis imperfecta type II. In the current study, sequencing of DMP1 cDNA and genomic clones has indicated that the human gene contains an open reading frame of 1539 bp, which predicts a highly acidic, serine-rich protein of 513 amino acids. Comparison of the human DMP1-coding sequence with that of the rat, mouse, and cow indicated that the predicted protein contains a conserved hydrophobic signal peptide sequence and an Arg-Gly-Asp cell attachment sequence. The gene is encoded by six exons, the splicing phase of which is type 0, the first exon containing solely 5′ untranslated sequence. Sequencing of each of the coding exons in individuals affected by dentinogenesis imperfecta type II failed to reveal any disease-specific mutations, suggesting that mutations in DMP1 are not causative of this condition at least in the two families examined in this study.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>9177774</pmid><doi>10.1006/geno.1997.4700</doi><tpages>8</tpages></addata></record> |
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| subjects | Amino Acid Sequence Animals Base Sequence Biological and medical sciences Cattle Dentinogenesis Imperfecta - classification Dentinogenesis Imperfecta - etiology Dentinogenesis Imperfecta - genetics DNA Primers - genetics DNA, Complementary - genetics Exons Extracellular Matrix Proteins Fundamental and applied biological sciences. Psychology Genes. Genome Humans Mice Molecular and cellular biology Molecular genetics Molecular Sequence Data Mutation Phosphoproteins - genetics Polymerase Chain Reaction Protein Sorting Signals - genetics Rats Sequence Homology, Amino Acid Species Specificity |
| title | Elucidation of the Sequence and the Genomic Organization of the Human Dentin Matrix Acidic Phosphoprotein 1 (DMP1) Gene: Exclusion of the Locus from a Causative Role in the Pathogenesis of Dentinogenesis Imperfecta Type II |
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