Patterns of Polymorphism and Linkage Disequilibrium Suggest Independent Origins of the Human Growth Hormone Gene Cluster
Six restriction fragment length polymorphisms (RFLPs) detected in the human growth hormone-human chorionic somatomammotropin (hGH-hCS) gene cluster were studied in Mediterraneans, Northern Europeans, and American Blacks; the polymorphisms showed that, on the average, one of 500 bases in this cluster...
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| Veröffentlicht in: | Proceedings of the National Academy of Sciences - PNAS 1984-10, Vol.81 (19), p.6085-6089 |
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| container_title | Proceedings of the National Academy of Sciences - PNAS |
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| creator | Chakravarti, Aravinda Phillips, John A. Mellits, Kenneth H. Buetow, Kenneth H. Seeburg, Peter H. |
| description | Six restriction fragment length polymorphisms (RFLPs) detected in the human growth hormone-human chorionic somatomammotropin (hGH-hCS) gene cluster were studied in Mediterraneans, Northern Europeans, and American Blacks; the polymorphisms showed that, on the average, one of 500 bases in this cluster is variant. Haplotypes constructed for four of these RFLPs display strong nonrandom associations. However, the strongest associations were between RFLPs that are in homologous DNAs rather than between the physically closest RFLPs. From this and other evidence we argue that duplication of an ancestral hCS gene occurred at least twice, the second event being relatively recent. In other words, duplication of the hCS-L gene to produce the hCS-A gene occurred twice, so that hCS-A genes in humans may have independent origins. Our results imply that chromosomes with absent hCS genes (leading to hCS deficiency) may represent the nonduplicated ancestral unit rather than gene deletions. |
| doi_str_mv | 10.1073/pnas.81.19.6085 |
| format | Article |
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Haplotypes constructed for four of these RFLPs display strong nonrandom associations. However, the strongest associations were between RFLPs that are in homologous DNAs rather than between the physically closest RFLPs. From this and other evidence we argue that duplication of an ancestral hCS gene occurred at least twice, the second event being relatively recent. In other words, duplication of the hCS-L gene to produce the hCS-A gene occurred twice, so that hCS-A genes in humans may have independent origins. Our results imply that chromosomes with absent hCS genes (leading to hCS deficiency) may represent the nonduplicated ancestral unit rather than gene deletions.</description><identifier>ISSN: 0027-8424</identifier><identifier>EISSN: 1091-6490</identifier><identifier>DOI: 10.1073/pnas.81.19.6085</identifier><identifier>PMID: 6091133</identifier><language>eng</language><publisher>United States: National Academy of Sciences of the United States of America</publisher><subject>African Continental Ancestry Group ; Amniotic Fluid - metabolism ; Base Sequence ; Chromosomes ; DNA ; DNA Restriction Enzymes ; European Continental Ancestry Group ; Female ; Genes ; Genetic Linkage ; Genetic loci ; Growth Hormone - genetics ; Haplotypes ; Human genetics ; Humans ; Leukocytes - metabolism ; Linkage disequilibrium ; Multigene family ; Nucleotides ; Placental Lactogen - genetics ; Plasmids ; Polymorphism, Genetic ; Pregnancy ; Restriction fragment length polymorphism</subject><ispartof>Proceedings of the National Academy of Sciences - PNAS, 1984-10, Vol.81 (19), p.6085-6089</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c461t-82e8983501e68cc1cbddbfe40de64460517a65c1093b788e21f53f6d492dbb33</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Uhttp://www.pnas.org/content/81/19.cover.gif</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/24568$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/24568$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>230,314,727,780,784,803,885,27922,27923,53789,53791,58015,58248</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6091133$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chakravarti, Aravinda</creatorcontrib><creatorcontrib>Phillips, John A.</creatorcontrib><creatorcontrib>Mellits, Kenneth H.</creatorcontrib><creatorcontrib>Buetow, Kenneth H.</creatorcontrib><creatorcontrib>Seeburg, Peter H.</creatorcontrib><title>Patterns of Polymorphism and Linkage Disequilibrium Suggest Independent Origins of the Human Growth Hormone Gene Cluster</title><title>Proceedings of the National Academy of Sciences - PNAS</title><addtitle>Proc Natl Acad Sci U S A</addtitle><description>Six restriction fragment length polymorphisms (RFLPs) detected in the human growth hormone-human chorionic somatomammotropin (hGH-hCS) gene cluster were studied in Mediterraneans, Northern Europeans, and American Blacks; the polymorphisms showed that, on the average, one of 500 bases in this cluster is variant. Haplotypes constructed for four of these RFLPs display strong nonrandom associations. However, the strongest associations were between RFLPs that are in homologous DNAs rather than between the physically closest RFLPs. From this and other evidence we argue that duplication of an ancestral hCS gene occurred at least twice, the second event being relatively recent. In other words, duplication of the hCS-L gene to produce the hCS-A gene occurred twice, so that hCS-A genes in humans may have independent origins. Our results imply that chromosomes with absent hCS genes (leading to hCS deficiency) may represent the nonduplicated ancestral unit rather than gene deletions.</description><subject>African Continental Ancestry Group</subject><subject>Amniotic Fluid - metabolism</subject><subject>Base Sequence</subject><subject>Chromosomes</subject><subject>DNA</subject><subject>DNA Restriction Enzymes</subject><subject>European Continental Ancestry Group</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic Linkage</subject><subject>Genetic loci</subject><subject>Growth Hormone - genetics</subject><subject>Haplotypes</subject><subject>Human genetics</subject><subject>Humans</subject><subject>Leukocytes - metabolism</subject><subject>Linkage disequilibrium</subject><subject>Multigene family</subject><subject>Nucleotides</subject><subject>Placental Lactogen - genetics</subject><subject>Plasmids</subject><subject>Polymorphism, Genetic</subject><subject>Pregnancy</subject><subject>Restriction fragment length polymorphism</subject><issn>0027-8424</issn><issn>1091-6490</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1984</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc9v0zAUxy0EGmVwRkIC-TRO6ezYcZwDB9RBO6nSJrG75SQvqUdiZ7YD23-Pq5YCFy7vHb6f7_uhL0JvKVlSUrLLyeqwlHRJq6UgsniGFpRUNBO8Is_RgpC8zCTP-Uv0KoR7QkhVSHKGzkSCKGML9HirYwRvA3YdvnXD0-j8tDNhxNq2eGvsd90DvjIBHmYzmNqbecTf5r6HEPG1bWGCVGzEN9705jAm7gBv5lFbvPbuZ9zhjfOjs4DXkMpqmEPa-Bq96PQQ4M2xn6O7r1_uVptse7O-Xn3eZg0XNGYyB1lJVhAKQjYNbeq2rTvgpAXBuSAFLbUomvQ0q0spIaddwTrR8ipv65qxc_TpMHaa6xHaJp3q9aAmb0btn5TTRv2rWLNTvfuhWEWl4Ml_cfR79zCnp9VoQgPDoC24OShJc1HykiTw8gA23oXgoTvtoETto1L7qBKvaKX2USXH-79PO_HHbJL-8ajvjb_VPwNUNw9DhMeYyA__JRPw7gDch-j8ich5IST7BUTQs_I</recordid><startdate>19841001</startdate><enddate>19841001</enddate><creator>Chakravarti, Aravinda</creator><creator>Phillips, John A.</creator><creator>Mellits, Kenneth H.</creator><creator>Buetow, Kenneth H.</creator><creator>Seeburg, Peter H.</creator><general>National Academy of Sciences of the United States of America</general><general>National Acad 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>7X8</scope><scope>5PM</scope></search><sort><creationdate>19841001</creationdate><title>Patterns of Polymorphism and Linkage Disequilibrium Suggest Independent Origins of the Human Growth Hormone Gene Cluster</title><author>Chakravarti, Aravinda ; Phillips, John A. ; Mellits, Kenneth H. ; Buetow, Kenneth H. ; Seeburg, Peter H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c461t-82e8983501e68cc1cbddbfe40de64460517a65c1093b788e21f53f6d492dbb33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1984</creationdate><topic>African Continental Ancestry Group</topic><topic>Amniotic Fluid - metabolism</topic><topic>Base Sequence</topic><topic>Chromosomes</topic><topic>DNA</topic><topic>DNA Restriction Enzymes</topic><topic>European Continental Ancestry Group</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic Linkage</topic><topic>Genetic loci</topic><topic>Growth Hormone - genetics</topic><topic>Haplotypes</topic><topic>Human genetics</topic><topic>Humans</topic><topic>Leukocytes - metabolism</topic><topic>Linkage disequilibrium</topic><topic>Multigene family</topic><topic>Nucleotides</topic><topic>Placental Lactogen - genetics</topic><topic>Plasmids</topic><topic>Polymorphism, Genetic</topic><topic>Pregnancy</topic><topic>Restriction fragment length polymorphism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chakravarti, Aravinda</creatorcontrib><creatorcontrib>Phillips, John A.</creatorcontrib><creatorcontrib>Mellits, Kenneth H.</creatorcontrib><creatorcontrib>Buetow, Kenneth H.</creatorcontrib><creatorcontrib>Seeburg, Peter H.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</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>Chakravarti, Aravinda</au><au>Phillips, John A.</au><au>Mellits, Kenneth H.</au><au>Buetow, Kenneth H.</au><au>Seeburg, Peter H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Patterns of Polymorphism and Linkage Disequilibrium Suggest Independent Origins of the Human Growth Hormone Gene Cluster</atitle><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle><addtitle>Proc Natl Acad Sci U S A</addtitle><date>1984-10-01</date><risdate>1984</risdate><volume>81</volume><issue>19</issue><spage>6085</spage><epage>6089</epage><pages>6085-6089</pages><issn>0027-8424</issn><eissn>1091-6490</eissn><abstract>Six restriction fragment length polymorphisms (RFLPs) detected in the human growth hormone-human chorionic somatomammotropin (hGH-hCS) gene cluster were studied in Mediterraneans, Northern Europeans, and American Blacks; the polymorphisms showed that, on the average, one of 500 bases in this cluster is variant. Haplotypes constructed for four of these RFLPs display strong nonrandom associations. However, the strongest associations were between RFLPs that are in homologous DNAs rather than between the physically closest RFLPs. From this and other evidence we argue that duplication of an ancestral hCS gene occurred at least twice, the second event being relatively recent. In other words, duplication of the hCS-L gene to produce the hCS-A gene occurred twice, so that hCS-A genes in humans may have independent origins. Our results imply that chromosomes with absent hCS genes (leading to hCS deficiency) may represent the nonduplicated ancestral unit rather than gene deletions.</abstract><cop>United States</cop><pub>National Academy of Sciences of the United States of America</pub><pmid>6091133</pmid><doi>10.1073/pnas.81.19.6085</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Proceedings of the National Academy of Sciences - PNAS, 1984-10, Vol.81 (19), p.6085-6089 |
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| subjects | African Continental Ancestry Group Amniotic Fluid - metabolism Base Sequence Chromosomes DNA DNA Restriction Enzymes European Continental Ancestry Group Female Genes Genetic Linkage Genetic loci Growth Hormone - genetics Haplotypes Human genetics Humans Leukocytes - metabolism Linkage disequilibrium Multigene family Nucleotides Placental Lactogen - genetics Plasmids Polymorphism, Genetic Pregnancy Restriction fragment length polymorphism |
| title | Patterns of Polymorphism and Linkage Disequilibrium Suggest Independent Origins of the Human Growth Hormone Gene Cluster |
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