Alu-Mediated Inactivation of the Human CMP-N-Acetylneuraminic Acid Hydroxylase Gene
Inactivation of the CMP-N-acetylneuraminic acid hydroxylase gene has provided an example of human-specific genomic mutation that results in a widespread biochemical difference between human and nonhuman primates. We have found that, although a region containing a 92-bp exon and an AluSq element in t...
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| Veröffentlicht in: | Proceedings of the National Academy of Sciences - PNAS 2001-09, Vol.98 (20), p.11399-11404 |
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| container_title | Proceedings of the National Academy of Sciences - PNAS |
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| creator | Hayakawa, Toshiyuki Satta, Yoko Gagneux, Pascal Varki, Ajit Takahata, Naoyuki |
| description | Inactivation of the CMP-N-acetylneuraminic acid hydroxylase gene has provided an example of human-specific genomic mutation that results in a widespread biochemical difference between human and nonhuman primates. We have found that, although a region containing a 92-bp exon and an AluSq element in the hydroxylase gene is intact in all nonhuman primates examined, the same region in the human genome is replaced by an AluY element that was disseminated at least one million years ago. We propose a mechanistic model for this Alu-mediated replacement event, which deleted the 92-bp exon and thus inactivated the human hydroxylase gene. It is suggested that Alu elements have played potentially important roles in genotypic and phenotypic evolution in the hominid lineage. |
| doi_str_mv | 10.1073/pnas.191268198 |
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We have found that, although a region containing a 92-bp exon and an AluSq element in the hydroxylase gene is intact in all nonhuman primates examined, the same region in the human genome is replaced by an AluY element that was disseminated at least one million years ago. We propose a mechanistic model for this Alu-mediated replacement event, which deleted the 92-bp exon and thus inactivated the human hydroxylase gene. 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We have found that, although a region containing a 92-bp exon and an AluSq element in the hydroxylase gene is intact in all nonhuman primates examined, the same region in the human genome is replaced by an AluY element that was disseminated at least one million years ago. We propose a mechanistic model for this Alu-mediated replacement event, which deleted the 92-bp exon and thus inactivated the human hydroxylase gene. It is suggested that Alu elements have played potentially important roles in genotypic and phenotypic evolution in the hominid lineage.</description><subject>Alu Elements - genetics</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological Sciences</subject><subject>CMP-N-acetylneuraminic acid hydroxylase gene</subject><subject>Complementary DNA</subject><subject>DNA</subject><subject>Evolution</subject><subject>Evolution, Molecular</subject><subject>Exons</subject><subject>Genetics</subject><subject>Genomics</subject><subject>Gorilla gorilla - genetics</subject><subject>Humans</subject><subject>Hylobates - genetics</subject><subject>Macaca mulatta</subject><subject>Mixed Function Oxygenases - genetics</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Pan troglodytes - genetics</subject><subject>Phylogeny</subject><subject>Polymerase Chain Reaction</subject><subject>Pongo pygmaeus - genetics</subject><subject>Primates</subject><subject>Primates - genetics</subject><subject>RNA</subject><subject>Sequence Deletion</subject><subject>Sequencing</subject><subject>Studies</subject><subject>transposon AluSq</subject><subject>transposon AluY</subject><issn>0027-8424</issn><issn>1091-6490</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp90b1vEzEYBnALgWgorEwITgyoywV_ny2xRBE0lVpaCZgtn8-mju7s1PZVzX_PRUnDx8Dk4f099ms9ALxGcI5gQz5ugs5zJBHmAknxBMwQlKjmVMKnYAYhbmpBMT0BL3JeQwglE_A5OEGIcUwZm4Fvi36sr2zndbFddRG0Kf5eFx9DFV1Vbm21GgcdquXVTf21Xhhbtn2wY9KDD95UC-O7arXtUnzY9jrb6twG-xI8c7rP9tXhPAU_vnz-vlzVl9fnF8vFZW04gaXGLTFUYtYy5mDLnSCtlK1rTct5RwzhCHLsOuccdaZFDTadFB0khBsuJKbkFHza37sZ28F2xoaSdK82yQ86bVXUXv09Cf5W_Yz3iomGoin-4RBP8W60uajBZ2P7Xgcbx6yQgJJShif4_h-4jmMK09cUhogI3pDdMvM9MinmnKw77oGg2lWldlWpY1VT4O2f2__mh24m8O4AdsHHsRTToxMiUk7i7P9CubHvi30oE32zp-tcYjpaAhlvMCe_AJjIsaw</recordid><startdate>20010925</startdate><enddate>20010925</enddate><creator>Hayakawa, Toshiyuki</creator><creator>Satta, Yoko</creator><creator>Gagneux, Pascal</creator><creator>Varki, Ajit</creator><creator>Takahata, Naoyuki</creator><general>National Academy of Sciences</general><general>National Acad Sciences</general><general>The National Academy of Sciences</general><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>7QG</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7TO</scope><scope>7U9</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>M7N</scope><scope>P64</scope><scope>RC3</scope><scope>5PM</scope></search><sort><creationdate>20010925</creationdate><title>Alu-Mediated Inactivation of the Human CMP-N-Acetylneuraminic Acid Hydroxylase Gene</title><author>Hayakawa, Toshiyuki ; Satta, Yoko ; Gagneux, Pascal ; Varki, Ajit ; Takahata, Naoyuki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c630t-2b3c4925b55f0b6f83b99bfbcb66d3c361062fdfff4fcb172cd98d0336c689243</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Alu Elements - genetics</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological Sciences</topic><topic>CMP-N-acetylneuraminic acid hydroxylase gene</topic><topic>Complementary DNA</topic><topic>DNA</topic><topic>Evolution</topic><topic>Evolution, Molecular</topic><topic>Exons</topic><topic>Genetics</topic><topic>Genomics</topic><topic>Gorilla gorilla - genetics</topic><topic>Humans</topic><topic>Hylobates - genetics</topic><topic>Macaca mulatta</topic><topic>Mixed Function Oxygenases - genetics</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Pan troglodytes - genetics</topic><topic>Phylogeny</topic><topic>Polymerase Chain Reaction</topic><topic>Pongo pygmaeus - genetics</topic><topic>Primates</topic><topic>Primates - genetics</topic><topic>RNA</topic><topic>Sequence Deletion</topic><topic>Sequencing</topic><topic>Studies</topic><topic>transposon AluSq</topic><topic>transposon AluY</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hayakawa, Toshiyuki</creatorcontrib><creatorcontrib>Satta, Yoko</creatorcontrib><creatorcontrib>Gagneux, Pascal</creatorcontrib><creatorcontrib>Varki, Ajit</creatorcontrib><creatorcontrib>Takahata, Naoyuki</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hayakawa, Toshiyuki</au><au>Satta, Yoko</au><au>Gagneux, Pascal</au><au>Varki, Ajit</au><au>Takahata, Naoyuki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Alu-Mediated Inactivation of the Human CMP-N-Acetylneuraminic Acid Hydroxylase Gene</atitle><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle><addtitle>Proc Natl Acad Sci U S A</addtitle><date>2001-09-25</date><risdate>2001</risdate><volume>98</volume><issue>20</issue><spage>11399</spage><epage>11404</epage><pages>11399-11404</pages><issn>0027-8424</issn><eissn>1091-6490</eissn><abstract>Inactivation of the CMP-N-acetylneuraminic acid hydroxylase gene has provided an example of human-specific genomic mutation that results in a widespread biochemical difference between human and nonhuman primates. We have found that, although a region containing a 92-bp exon and an AluSq element in the hydroxylase gene is intact in all nonhuman primates examined, the same region in the human genome is replaced by an AluY element that was disseminated at least one million years ago. We propose a mechanistic model for this Alu-mediated replacement event, which deleted the 92-bp exon and thus inactivated the human hydroxylase gene. It is suggested that Alu elements have played potentially important roles in genotypic and phenotypic evolution in the hominid lineage.</abstract><cop>United States</cop><pub>National Academy of Sciences</pub><pmid>11562455</pmid><doi>10.1073/pnas.191268198</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Alu Elements - genetics Animals Base Sequence Biological Sciences CMP-N-acetylneuraminic acid hydroxylase gene Complementary DNA DNA Evolution Evolution, Molecular Exons Genetics Genomics Gorilla gorilla - genetics Humans Hylobates - genetics Macaca mulatta Mixed Function Oxygenases - genetics Molecular Sequence Data Mutation Pan troglodytes - genetics Phylogeny Polymerase Chain Reaction Pongo pygmaeus - genetics Primates Primates - genetics RNA Sequence Deletion Sequencing Studies transposon AluSq transposon AluY |
| title | Alu-Mediated Inactivation of the Human CMP-N-Acetylneuraminic Acid Hydroxylase Gene |
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