Characterization of three separated exons in the HLA class II DR region of the human major histocompatibility complex
Identifieur interne : 004098 ( Main/Exploration ); précédent : 004097; suivant : 004099Characterization of three separated exons in the HLA class II DR region of the human major histocompatibility complex
Auteurs : Ann-Kristin Arvidsson [Suède] ; Ann-Cathrin Svensson [Suède] ; Eva Widmark [Suède] ; Göran Andersson [Suède] ; Lars Rask [Suède] ; Dan Larhammar [Suède]Source :
- Human Immunology [ 0198-8859 ] ; 1995.
English descriptors
- Teeft :
- Andersson, Biol, Biol chem, Coding sequence, Consensus sequence, Diagonal line, Drb4, Drb7, Drb9, Drb9 exon, Drb9 gene, Drb9 sequence, Drbl, Eru9, Eru9 ltr2 copy, Erv9, Erv9 ltrs, Exon, Expr, Gene, Haplotype, Histocompatibility, Human genome, Intron, Locus, Ltr2, Ltrs, Medium reiteration frequency, Nucleotide, Nucleotide sequence, Nucleotide sequences, Orb1, Orb4, Orb7, Orb9, Orb9 copy, Percent identity, Rask, Separate exons, Sequence identity, Splice, Sxpr, Termination codon.
Abstract
Abstract: The human major histocompatibility complex, HLA, is a highly polymorphic gene region which includes the DRA and DRB genes. The number of DRB genes differs between haplotypes. The DR4 haplotype seems to be one of the most complex with five DRB loci, DRB1, DRB4, DRB7, DRB8, and DRB9, in addition to the single DRA locus. We determined the nucleotide sequences of three separated DRB exons located between the DRB4 locus and the DRA locus in the DR4 haplotype, two DRB signal-peptide exons (S1 and S3) and one DRB first-domain exon (locus designation DRB9). Sequence comparisons suggest the following order of events for the origin of these exons: DRB9 seems to be the oldest exon and has previously been detected in multiple HLA haplotypes. DRB9 is more divergent than the three other known DRB pseudogenes, all of which have been found in apes. This suggests that DRB9 arose prior to the hominoid divergence. An L1 repeat has been inserted 3′ to DRB9. Subsequently, a LTR of the ERV9 retrovirus-like family was inserted into the L1 repeat. Such LTRs have recently been observed in some of the other DRB genes. The pseudogenes DRB7 and DRB8 (containing only exons 3–6) arose after DRB9. Finally, the separated signal peptide exons S1 and S3 were formed. The molecular characterization of these separated DRB exons and insertion elements further clarifies the complex evolutionary history of the HLA-DR region. These selectively neutral exons may serve as useful markers for tracing the phylogeny of HLA haplotypes.
Url:
DOI: 10.1016/0198-8859(94)00102-V
Affiliations:
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xml:lang="fr">Suède</country><wicri:regionArea>From the Ludwig Institute for Cancer Research, Uppsala</wicri:regionArea><wicri:noRegion>Uppsala</wicri:noRegion></affiliation></author><author><name sortKey="Larhammar, Dan" sort="Larhammar, Dan" uniqKey="Larhammar D" first="Dan" last="Larhammar">Dan Larhammar</name><affiliation wicri:level="4"><country xml:lang="fr">Suède</country><wicri:regionArea>From the Department of Niedical Genetics, Uppsala University, Uppsala</wicri:regionArea><orgName type="university">Université d'Uppsala</orgName><placeName><settlement type="city">Uppsala</settlement><region nuts="1">Svealand</region><region nuts="1">East Middle Sweden</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Immunology</title><title level="j" type="abbrev">HIM</title><idno type="ISSN">0198-8859</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1995">1995</date><biblScope unit="volume">42</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="254">254</biblScope><biblScope unit="page" to="264">264</biblScope></imprint><idno type="ISSN">0198-8859</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0198-8859</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Andersson</term><term>Biol</term><term>Biol chem</term><term>Coding sequence</term><term>Consensus sequence</term><term>Diagonal line</term><term>Drb4</term><term>Drb7</term><term>Drb9</term><term>Drb9 exon</term><term>Drb9 gene</term><term>Drb9 sequence</term><term>Drbl</term><term>Eru9</term><term>Eru9 ltr2 copy</term><term>Erv9</term><term>Erv9 ltrs</term><term>Exon</term><term>Expr</term><term>Gene</term><term>Haplotype</term><term>Histocompatibility</term><term>Human genome</term><term>Intron</term><term>Locus</term><term>Ltr2</term><term>Ltrs</term><term>Medium reiteration frequency</term><term>Nucleotide</term><term>Nucleotide sequence</term><term>Nucleotide sequences</term><term>Orb1</term><term>Orb4</term><term>Orb7</term><term>Orb9</term><term>Orb9 copy</term><term>Percent identity</term><term>Rask</term><term>Separate exons</term><term>Sequence identity</term><term>Splice</term><term>Sxpr</term><term>Termination codon</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abstract: The human major histocompatibility complex, HLA, is a highly polymorphic gene region which includes the DRA and DRB genes. The number of DRB genes differs between haplotypes. The DR4 haplotype seems to be one of the most complex with five DRB loci, DRB1, DRB4, DRB7, DRB8, and DRB9, in addition to the single DRA locus. We determined the nucleotide sequences of three separated DRB exons located between the DRB4 locus and the DRA locus in the DR4 haplotype, two DRB signal-peptide exons (S1 and S3) and one DRB first-domain exon (locus designation DRB9). Sequence comparisons suggest the following order of events for the origin of these exons: DRB9 seems to be the oldest exon and has previously been detected in multiple HLA haplotypes. DRB9 is more divergent than the three other known DRB pseudogenes, all of which have been found in apes. This suggests that DRB9 arose prior to the hominoid divergence. An L1 repeat has been inserted 3′ to DRB9. Subsequently, a LTR of the ERV9 retrovirus-like family was inserted into the L1 repeat. Such LTRs have recently been observed in some of the other DRB genes. The pseudogenes DRB7 and DRB8 (containing only exons 3–6) arose after DRB9. Finally, the separated signal peptide exons S1 and S3 were formed. The molecular characterization of these separated DRB exons and insertion elements further clarifies the complex evolutionary history of the HLA-DR region. These selectively neutral exons may serve as useful markers for tracing the phylogeny of HLA haplotypes.</div></front></TEI><affiliations><list><country><li>Suède</li></country><region><li>East Middle Sweden</li><li>Svealand</li></region><settlement><li>Uppsala</li></settlement><orgName><li>Université d'Uppsala</li></orgName></list><tree><country name="Suède"><noRegion><name sortKey="Arvidsson, Ann Kristin" sort="Arvidsson, Ann Kristin" uniqKey="Arvidsson A" first="Ann-Kristin" last="Arvidsson">Ann-Kristin Arvidsson</name></noRegion><name sortKey="Andersson, Goran" sort="Andersson, Goran" uniqKey="Andersson G" first="Göran" last="Andersson">Göran Andersson</name><name sortKey="Larhammar, Dan" sort="Larhammar, Dan" uniqKey="Larhammar D" first="Dan" last="Larhammar">Dan Larhammar</name><name sortKey="Rask, Lars" sort="Rask, Lars" uniqKey="Rask L" first="Lars" last="Rask">Lars Rask</name><name sortKey="Svensson, Ann Cathrin" sort="Svensson, Ann Cathrin" uniqKey="Svensson A" first="Ann-Cathrin" last="Svensson">Ann-Cathrin Svensson</name><name sortKey="Widmark, Eva" sort="Widmark, Eva" uniqKey="Widmark E" first="Eva" last="Widmark">Eva Widmark</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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