Prevalence and evolutionary origins of autoimmune susceptibility alleles in natural mouse populations
The evolutionary origin of genetic diversity in the SLAM/CD2 gene cluster, implicated in autoimmune lupus susceptibility in mice, was investigated by sequence analysis of exons from six members of the cluster in 48 wild mouse samples derived from the global mouse population. A total of 80 coding reg...
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description | The evolutionary origin of genetic diversity in the SLAM/CD2 gene cluster, implicated in autoimmune lupus susceptibility in mice, was investigated by sequence analysis of exons from six members of the cluster in 48 wild mouse samples derived from the global mouse population. A total of 80 coding region SNPs were identified among the six genes analyzed, indicating that this gene cluster is highly polymorphic in natural mouse populations. Phylogenetic analyses of these allelic sequences revealed clustering of alleles derived from multiple
Mus
species and subspecies, indicating alleles at several SLAM/CD2 loci were present in ancestral
Mus
populations prior to speciation and have persisted as polymorphisms for more than 1 million years. Analyses of nonsynonymous/synonymous ratios using likelihood codon substitution models identified several segments in
Cd229
,
Cd48
and
Cd84
that were impacted by positive diversifying selective pressures. These findings support the interpretation that selection favoring the generation and retention of functional polymorphisms has played a role in the evolutionary origin of genetic polymorphisms that are predisposing to autoimmunity. |
doi_str_mv | 10.1038/sj.gene.6364446 |
format | Article |
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Mus
species and subspecies, indicating alleles at several SLAM/CD2 loci were present in ancestral
Mus
populations prior to speciation and have persisted as polymorphisms for more than 1 million years. Analyses of nonsynonymous/synonymous ratios using likelihood codon substitution models identified several segments in
Cd229
,
Cd48
and
Cd84
that were impacted by positive diversifying selective pressures. These findings support the interpretation that selection favoring the generation and retention of functional polymorphisms has played a role in the evolutionary origin of genetic polymorphisms that are predisposing to autoimmunity.</description><identifier>ISSN: 1466-4879</identifier><identifier>EISSN: 1476-5470</identifier><identifier>DOI: 10.1038/sj.gene.6364446</identifier><identifier>PMID: 18094711</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Alleles ; Amino Acid Sequence ; Animals ; Animals, Laboratory ; Animals, Wild ; Antigens, CD - genetics ; Antigens, CD - immunology ; Autoimmune diseases ; Autoimmunity ; Autoimmunity - genetics ; Autoimmunity - immunology ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Codon ; Evolution ; Evolution, Molecular ; Exons ; Gene Expression ; Gene polymorphism ; Genes ; Genetic aspects ; Genetic diversity ; Genetic Predisposition to Disease ; Genetics, Population ; Genomes ; Haplotypes ; Health aspects ; Human Genetics ; Immune system ; Immunology ; Laboratories ; Lupus ; Mice ; Mice, Inbred C57BL ; Mice, Inbred NOD ; Molecular Sequence Data ; Multigene Family ; Mus ; original-article ; Phylogenetics ; Phylogeny ; Physiological aspects ; Polymorphism, Single Nucleotide ; Population genetics ; Prevalence ; Protein Structure, Tertiary ; Risk factors ; Selection, Genetic ; Sequence analysis ; Sequence Analysis, DNA ; Sequence Homology, Amino Acid ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Speciation</subject><ispartof>Genes and immunity, 2008-01, Vol.9 (1), p.61-68</ispartof><rights>Springer Nature Limited 2008</rights><rights>COPYRIGHT 2008 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Jan 2008</rights><rights>Nature Publishing Group 2008.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c564t-29fc16e5c65efe007fa233b28071ccda5147e5669f657ecbe1fe6b1cb3e40a7f3</citedby><cites>FETCH-LOGICAL-c564t-29fc16e5c65efe007fa233b28071ccda5147e5669f657ecbe1fe6b1cb3e40a7f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/sj.gene.6364446$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/sj.gene.6364446$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,777,781,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18094711$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Limaye, N</creatorcontrib><creatorcontrib>Belobrajdic, K A</creatorcontrib><creatorcontrib>Wandstrat, A E</creatorcontrib><creatorcontrib>Bonhomme, F</creatorcontrib><creatorcontrib>Edwards, S V</creatorcontrib><creatorcontrib>Wakeland, E K</creatorcontrib><title>Prevalence and evolutionary origins of autoimmune susceptibility alleles in natural mouse populations</title><title>Genes and immunity</title><addtitle>Genes Immun</addtitle><addtitle>Genes Immun</addtitle><description>The evolutionary origin of genetic diversity in the SLAM/CD2 gene cluster, implicated in autoimmune lupus susceptibility in mice, was investigated by sequence analysis of exons from six members of the cluster in 48 wild mouse samples derived from the global mouse population. A total of 80 coding region SNPs were identified among the six genes analyzed, indicating that this gene cluster is highly polymorphic in natural mouse populations. Phylogenetic analyses of these allelic sequences revealed clustering of alleles derived from multiple
Mus
species and subspecies, indicating alleles at several SLAM/CD2 loci were present in ancestral
Mus
populations prior to speciation and have persisted as polymorphisms for more than 1 million years. Analyses of nonsynonymous/synonymous ratios using likelihood codon substitution models identified several segments in
Cd229
,
Cd48
and
Cd84
that were impacted by positive diversifying selective pressures. These findings support the interpretation that selection favoring the generation and retention of functional polymorphisms has played a role in the evolutionary origin of genetic polymorphisms that are predisposing to autoimmunity.</description><subject>Alleles</subject><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Animals, Laboratory</subject><subject>Animals, Wild</subject><subject>Antigens, CD - genetics</subject><subject>Antigens, CD - immunology</subject><subject>Autoimmune diseases</subject><subject>Autoimmunity</subject><subject>Autoimmunity - genetics</subject><subject>Autoimmunity - immunology</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Codon</subject><subject>Evolution</subject><subject>Evolution, Molecular</subject><subject>Exons</subject><subject>Gene Expression</subject><subject>Gene polymorphism</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic diversity</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetics, Population</subject><subject>Genomes</subject><subject>Haplotypes</subject><subject>Health aspects</subject><subject>Human Genetics</subject><subject>Immune system</subject><subject>Immunology</subject><subject>Laboratories</subject><subject>Lupus</subject><subject>Mice</subject><subject>Mice, Inbred C57BL</subject><subject>Mice, Inbred NOD</subject><subject>Molecular Sequence Data</subject><subject>Multigene Family</subject><subject>Mus</subject><subject>original-article</subject><subject>Phylogenetics</subject><subject>Phylogeny</subject><subject>Physiological aspects</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population genetics</subject><subject>Prevalence</subject><subject>Protein Structure, Tertiary</subject><subject>Risk factors</subject><subject>Selection, Genetic</subject><subject>Sequence analysis</subject><subject>Sequence Analysis, DNA</subject><subject>Sequence Homology, Amino Acid</subject><subject>Single nucleotide polymorphisms</subject><subject>Single-nucleotide polymorphism</subject><subject>Speciation</subject><issn>1466-4879</issn><issn>1476-5470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkt1rHCEUxYfS0qRpn_tWpIVCH2ajjqMzjyH0IxBo6cezOO51cHF0qmNI_vs67MKypaH4oOjvHu_RU1WvCd4Q3HSXabcZwcOGN5wxxp9U54QJXrdM4KfrmvOadaI_q16ktMOYcML759UZ6XDPBCHnFXyLcKcceA1I-S2Cu-DyYoNX8QGFaEfrEwoGqbwEO03ZA0o5aZgXO1hnlweknAMHCVmPvFpyVA5NISdAc5izU6tWelk9M8oleHWYL6pfnz7-vP5S3379fHN9dVvrlrOlpr3RhEOreQsGMBZG0aYZaIcF0Xqr2mIOWs57w1sBegBigA9EDw0wrIRpLqr3e905ht8Z0iInW5p1TnkoPUmBKeWYkv-CFLccM9wW8N1f4C7k6IsJSTkjovRHRKHePkqRrhMNI_1RaizvLa03YYlKr_fKK9K1tKeix4Xa_IMqYwuT1cGDsWX_pODDSUFhFrhfRpVTkjc_vp-yl3tWx5BSBCPnaKfy1ZJguQZKpp1cAyUPgSoVbw7O8jDB9sgfElQAvAdSOfIjxKP1xzT_AF9O1u0</recordid><startdate>20080101</startdate><enddate>20080101</enddate><creator>Limaye, N</creator><creator>Belobrajdic, K A</creator><creator>Wandstrat, A E</creator><creator>Bonhomme, F</creator><creator>Edwards, S V</creator><creator>Wakeland, E K</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</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>ISR</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20080101</creationdate><title>Prevalence and evolutionary origins of autoimmune susceptibility alleles in natural mouse populations</title><author>Limaye, N ; Belobrajdic, K A ; Wandstrat, A E ; Bonhomme, F ; Edwards, S V ; Wakeland, E K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c564t-29fc16e5c65efe007fa233b28071ccda5147e5669f657ecbe1fe6b1cb3e40a7f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Alleles</topic><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Animals, Laboratory</topic><topic>Animals, Wild</topic><topic>Antigens, CD - genetics</topic><topic>Antigens, CD - immunology</topic><topic>Autoimmune diseases</topic><topic>Autoimmunity</topic><topic>Autoimmunity - genetics</topic><topic>Autoimmunity - immunology</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Codon</topic><topic>Evolution</topic><topic>Evolution, Molecular</topic><topic>Exons</topic><topic>Gene Expression</topic><topic>Gene polymorphism</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic diversity</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetics, Population</topic><topic>Genomes</topic><topic>Haplotypes</topic><topic>Health aspects</topic><topic>Human Genetics</topic><topic>Immune system</topic><topic>Immunology</topic><topic>Laboratories</topic><topic>Lupus</topic><topic>Mice</topic><topic>Mice, Inbred C57BL</topic><topic>Mice, Inbred NOD</topic><topic>Molecular Sequence Data</topic><topic>Multigene Family</topic><topic>Mus</topic><topic>original-article</topic><topic>Phylogenetics</topic><topic>Phylogeny</topic><topic>Physiological aspects</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population genetics</topic><topic>Prevalence</topic><topic>Protein Structure, Tertiary</topic><topic>Risk factors</topic><topic>Selection, Genetic</topic><topic>Sequence analysis</topic><topic>Sequence Analysis, DNA</topic><topic>Sequence Homology, Amino Acid</topic><topic>Single nucleotide polymorphisms</topic><topic>Single-nucleotide polymorphism</topic><topic>Speciation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Limaye, N</creatorcontrib><creatorcontrib>Belobrajdic, K A</creatorcontrib><creatorcontrib>Wandstrat, A E</creatorcontrib><creatorcontrib>Bonhomme, F</creatorcontrib><creatorcontrib>Edwards, S V</creatorcontrib><creatorcontrib>Wakeland, E K</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical 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China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genes and immunity</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Limaye, N</au><au>Belobrajdic, K A</au><au>Wandstrat, A E</au><au>Bonhomme, F</au><au>Edwards, S V</au><au>Wakeland, E K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prevalence and evolutionary origins of autoimmune susceptibility alleles in natural mouse populations</atitle><jtitle>Genes and immunity</jtitle><stitle>Genes Immun</stitle><addtitle>Genes Immun</addtitle><date>2008-01-01</date><risdate>2008</risdate><volume>9</volume><issue>1</issue><spage>61</spage><epage>68</epage><pages>61-68</pages><issn>1466-4879</issn><eissn>1476-5470</eissn><abstract>The evolutionary origin of genetic diversity in the SLAM/CD2 gene cluster, implicated in autoimmune lupus susceptibility in mice, was investigated by sequence analysis of exons from six members of the cluster in 48 wild mouse samples derived from the global mouse population. A total of 80 coding region SNPs were identified among the six genes analyzed, indicating that this gene cluster is highly polymorphic in natural mouse populations. Phylogenetic analyses of these allelic sequences revealed clustering of alleles derived from multiple
Mus
species and subspecies, indicating alleles at several SLAM/CD2 loci were present in ancestral
Mus
populations prior to speciation and have persisted as polymorphisms for more than 1 million years. Analyses of nonsynonymous/synonymous ratios using likelihood codon substitution models identified several segments in
Cd229
,
Cd48
and
Cd84
that were impacted by positive diversifying selective pressures. These findings support the interpretation that selection favoring the generation and retention of functional polymorphisms has played a role in the evolutionary origin of genetic polymorphisms that are predisposing to autoimmunity.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>18094711</pmid><doi>10.1038/sj.gene.6364446</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; SpringerLink Journals - AutoHoldings |
subjects | Alleles Amino Acid Sequence Animals Animals, Laboratory Animals, Wild Antigens, CD - genetics Antigens, CD - immunology Autoimmune diseases Autoimmunity Autoimmunity - genetics Autoimmunity - immunology Biomedical and Life Sciences Biomedicine Cancer Research Codon Evolution Evolution, Molecular Exons Gene Expression Gene polymorphism Genes Genetic aspects Genetic diversity Genetic Predisposition to Disease Genetics, Population Genomes Haplotypes Health aspects Human Genetics Immune system Immunology Laboratories Lupus Mice Mice, Inbred C57BL Mice, Inbred NOD Molecular Sequence Data Multigene Family Mus original-article Phylogenetics Phylogeny Physiological aspects Polymorphism, Single Nucleotide Population genetics Prevalence Protein Structure, Tertiary Risk factors Selection, Genetic Sequence analysis Sequence Analysis, DNA Sequence Homology, Amino Acid Single nucleotide polymorphisms Single-nucleotide polymorphism Speciation |
title | Prevalence and evolutionary origins of autoimmune susceptibility alleles in natural mouse populations |
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