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Genetic polymorphism of the major regulatory element HS‐40 upstream of the human α‐globin gene cluster
The highly conserved 350‐bp major regulatory element HS‐40 (or αMRE) upstream of the human α‐globin gene cluster is involved in the regulation of α‐globin gene expression. The study of αMRE differences between human populations and the evolution of αMRE sequences in mammals may lead to a better unde...
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| Published in: | British journal of haematology 2002-12, Vol.119 (3), p.848-854 |
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| container_issue | 3 |
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| container_title | British journal of haematology |
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| creator | Harteveld, Cornelis L. Muglia, Maria Passarino, Giuseppe Kielman, Menno F. Bernini, Luigi F. |
| description | The highly conserved 350‐bp major regulatory element HS‐40 (or αMRE) upstream of the human α‐globin gene cluster is involved in the regulation of α‐globin gene expression. The study of αMRE differences between human populations and the evolution of αMRE sequences in mammals may lead to a better understanding of the function and importance of this element in the regulation of expression of the downstream α‐cluster. Denaturing gradient gel electrophoresis was used to determine the sequence heterogeneity of the αMRE region in 276 unrelated individuals, representing seven different populations. Furthermore, we analysed the α major regulatory elements of chimpanzee, orang‐utan and rhesus monkeys and compared them with the equivalent human and murine sequences. Six different αMRE haplotypes (labelled A to F) were found in humans. Haplotype frequencies between the seven populations showed a gradual shift to a higher haplotype A distribution from west to east, being the highest in Indonesians. The African sample shows the largest divergence in haplotypes. Five out of six different haplotypes were present, three of which were exclusively found in Africans. The high prevalence of the haplotype A in humans, together with the conservation of this haplotype in apes, suggests that it is the ancestral one. The αMRE fragment appears to be a highly polymorphic marker, which could be used in combination with the regular markers in the α‐cluster to extend the haplotype and to follow segregation of α‐thalassaemia genes in population studies more accurately. |
| doi_str_mv | 10.1046/j.1365-2141.2002.03917.x |
| format | article |
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The study of αMRE differences between human populations and the evolution of αMRE sequences in mammals may lead to a better understanding of the function and importance of this element in the regulation of expression of the downstream α‐cluster. Denaturing gradient gel electrophoresis was used to determine the sequence heterogeneity of the αMRE region in 276 unrelated individuals, representing seven different populations. Furthermore, we analysed the α major regulatory elements of chimpanzee, orang‐utan and rhesus monkeys and compared them with the equivalent human and murine sequences. Six different αMRE haplotypes (labelled A to F) were found in humans. Haplotype frequencies between the seven populations showed a gradual shift to a higher haplotype A distribution from west to east, being the highest in Indonesians. The African sample shows the largest divergence in haplotypes. Five out of six different haplotypes were present, three of which were exclusively found in Africans. The high prevalence of the haplotype A in humans, together with the conservation of this haplotype in apes, suggests that it is the ancestral one. The αMRE fragment appears to be a highly polymorphic marker, which could be used in combination with the regular markers in the α‐cluster to extend the haplotype and to follow segregation of α‐thalassaemia genes in population studies more accurately.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1046/j.1365-2141.2002.03917.x</identifier><identifier>PMID: 12437670</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Science Ltd</publisher><subject>alpha-Thalassemia - genetics ; Anemias. 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The study of αMRE differences between human populations and the evolution of αMRE sequences in mammals may lead to a better understanding of the function and importance of this element in the regulation of expression of the downstream α‐cluster. Denaturing gradient gel electrophoresis was used to determine the sequence heterogeneity of the αMRE region in 276 unrelated individuals, representing seven different populations. Furthermore, we analysed the α major regulatory elements of chimpanzee, orang‐utan and rhesus monkeys and compared them with the equivalent human and murine sequences. Six different αMRE haplotypes (labelled A to F) were found in humans. Haplotype frequencies between the seven populations showed a gradual shift to a higher haplotype A distribution from west to east, being the highest in Indonesians. The African sample shows the largest divergence in haplotypes. Five out of six different haplotypes were present, three of which were exclusively found in Africans. The high prevalence of the haplotype A in humans, together with the conservation of this haplotype in apes, suggests that it is the ancestral one. The αMRE fragment appears to be a highly polymorphic marker, which could be used in combination with the regular markers in the α‐cluster to extend the haplotype and to follow segregation of α‐thalassaemia genes in population studies more accurately.</description><subject>alpha-Thalassemia - genetics</subject><subject>Anemias. Hemoglobinopathies</subject><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Consensus Sequence - genetics</subject><subject>Continental Population Groups - genetics</subject><subject>Diseases of red blood cells</subject><subject>DNA - genetics</subject><subject>Genetic Linkage - genetics</subject><subject>Globins - genetics</subject><subject>haplotype</subject><subject>Haplotypes - genetics</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hominidae - genetics</subject><subject>Homozygote</subject><subject>HS‐40</subject><subject>Humans</subject><subject>major regulatory element</subject><subject>Medical sciences</subject><subject>Polymorphism, Genetic - genetics</subject><subject>population genetics</subject><subject>Regulatory Sequences, Nucleic Acid - genetics</subject><subject>Sequence Analysis, DNA</subject><subject>α‐globin gene cluster</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><recordid>eNqNkEuO1DAQhi0EYpqBKyBvYNehHL-SBQsYMdOgkVgAa8txyt1pnAd2opnecYS5ChfhEJyEhG7NbFmVpfr-qvJHCGWQMRDqzT5jXMl1zgTLcoA8A14ynd0-Iqv7xmOyAgC9ngPFGXmW0h6AcZDsKTljueBaaViR71fY4dg4OvTh0PZx2DWppb2n4w5pa_d9pBG3U7BjHw8UA7bYjXTz5c_POwF0GtIY0d4HdlNrO_r719zdhr5qOrqdx1MXpjRifE6eeBsSvjjVc_Lt8sPXi836-vPVx4t312vHS6nXtZJazv8BhQKlsHUJhfLeO1EyXtdSFVbkFn3tHWinfFVJXXHrcizqXEPFz8nr49wh9j8mTKNpm-QwBNthPyWjc1WAKMUMFkfQxT6liN4MsWltPBgGZhFt9mbxaRafZhFt_ok2t3P05WnHVLVYPwRPZmfg1Qmwydngo-1ckx44waXM1cK9PXI3TcDDfx9g3n_aLC_-F-m6nOI</recordid><startdate>200212</startdate><enddate>200212</enddate><creator>Harteveld, Cornelis L.</creator><creator>Muglia, Maria</creator><creator>Passarino, Giuseppe</creator><creator>Kielman, Menno F.</creator><creator>Bernini, Luigi F.</creator><general>Blackwell Science Ltd</general><general>Blackwell</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>7X8</scope></search><sort><creationdate>200212</creationdate><title>Genetic polymorphism of the major regulatory element HS‐40 upstream of the human α‐globin gene cluster</title><author>Harteveld, Cornelis L. ; Muglia, Maria ; Passarino, Giuseppe ; Kielman, Menno F. ; Bernini, Luigi F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3957-d657539106e4e54ad9086fffc4913dd568a42aefdfc07c6fbb57b3ac2e8d270b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>alpha-Thalassemia - genetics</topic><topic>Anemias. Hemoglobinopathies</topic><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Consensus Sequence - genetics</topic><topic>Continental Population Groups - genetics</topic><topic>Diseases of red blood cells</topic><topic>DNA - genetics</topic><topic>Genetic Linkage - genetics</topic><topic>Globins - genetics</topic><topic>haplotype</topic><topic>Haplotypes - genetics</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hominidae - genetics</topic><topic>Homozygote</topic><topic>HS‐40</topic><topic>Humans</topic><topic>major regulatory element</topic><topic>Medical sciences</topic><topic>Polymorphism, Genetic - genetics</topic><topic>population genetics</topic><topic>Regulatory Sequences, Nucleic Acid - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>α‐globin gene cluster</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Harteveld, Cornelis L.</creatorcontrib><creatorcontrib>Muglia, Maria</creatorcontrib><creatorcontrib>Passarino, Giuseppe</creatorcontrib><creatorcontrib>Kielman, Menno F.</creatorcontrib><creatorcontrib>Bernini, Luigi F.</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>MEDLINE - Academic</collection><jtitle>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Harteveld, Cornelis L.</au><au>Muglia, Maria</au><au>Passarino, Giuseppe</au><au>Kielman, Menno F.</au><au>Bernini, Luigi F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic polymorphism of the major regulatory element HS‐40 upstream of the human α‐globin gene cluster</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>2002-12</date><risdate>2002</risdate><volume>119</volume><issue>3</issue><spage>848</spage><epage>854</epage><pages>848-854</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>The highly conserved 350‐bp major regulatory element HS‐40 (or αMRE) upstream of the human α‐globin gene cluster is involved in the regulation of α‐globin gene expression. The study of αMRE differences between human populations and the evolution of αMRE sequences in mammals may lead to a better understanding of the function and importance of this element in the regulation of expression of the downstream α‐cluster. Denaturing gradient gel electrophoresis was used to determine the sequence heterogeneity of the αMRE region in 276 unrelated individuals, representing seven different populations. Furthermore, we analysed the α major regulatory elements of chimpanzee, orang‐utan and rhesus monkeys and compared them with the equivalent human and murine sequences. Six different αMRE haplotypes (labelled A to F) were found in humans. Haplotype frequencies between the seven populations showed a gradual shift to a higher haplotype A distribution from west to east, being the highest in Indonesians. The African sample shows the largest divergence in haplotypes. Five out of six different haplotypes were present, three of which were exclusively found in Africans. The high prevalence of the haplotype A in humans, together with the conservation of this haplotype in apes, suggests that it is the ancestral one. The αMRE fragment appears to be a highly polymorphic marker, which could be used in combination with the regular markers in the α‐cluster to extend the haplotype and to follow segregation of α‐thalassaemia genes in population studies more accurately.</abstract><cop>Oxford, UK</cop><pub>Blackwell Science Ltd</pub><pmid>12437670</pmid><doi>10.1046/j.1365-2141.2002.03917.x</doi><tpages>7</tpages></addata></record> |
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| ispartof | British journal of haematology, 2002-12, Vol.119 (3), p.848-854 |
| issn | 0007-1048 1365-2141 |
| language | eng |
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| source | Wiley |
| subjects | alpha-Thalassemia - genetics Anemias. Hemoglobinopathies Animals Biological and medical sciences Consensus Sequence - genetics Continental Population Groups - genetics Diseases of red blood cells DNA - genetics Genetic Linkage - genetics Globins - genetics haplotype Haplotypes - genetics Hematologic and hematopoietic diseases Hominidae - genetics Homozygote HS‐40 Humans major regulatory element Medical sciences Polymorphism, Genetic - genetics population genetics Regulatory Sequences, Nucleic Acid - genetics Sequence Analysis, DNA α‐globin gene cluster |
| title | Genetic polymorphism of the major regulatory element HS‐40 upstream of the human α‐globin gene cluster |
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