Mosaicism of Solid Gold Supports the Causality of a Noncoding A-to-G Transition in the Determinism of the Callipyge Phenotype
To identify the callipyge mutation, we have resequenced 184 kb spanning the DLK1-, GTL2-, PEG11-, and MEG8-imprinted domain and have identified an A-to-G transition in a highly conserved dodecamer motif between DLK1 and GTL2. This was the only difference found between the callipyge (CLPG) allele and...
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| Veröffentlicht in: | Genetics (Austin) 2003-01, Vol.163 (1), p.453-456 |
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| container_title | Genetics (Austin) |
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| creator | Smit, Maria Segers, Karin Carrascosa, Laura Garcia Shay, Tracy Baraldi, Francesca Gyapay, Gabor Snowder, Gary Georges, Michel Cockett, Noelle Charlier, Carole |
| description | To identify the callipyge mutation, we have resequenced 184 kb spanning the DLK1-, GTL2-, PEG11-, and MEG8-imprinted domain and have identified an A-to-G transition in a highly conserved dodecamer motif between DLK1 and GTL2. This was the only difference found between the callipyge (CLPG) allele and a phylogenetically closely related wild-type allele. We report that this SNP is in perfect association with the callipyge genotype. The demonstration that Solid Gold-the alleged founder ram of the callipyge flock-is mosaic for this SNP virtually proves the causality of this SNP in the determinism of the callipyge phenotype. |
| doi_str_mv | 10.1093/genetics/163.1.453 |
| format | Article |
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This was the only difference found between the callipyge (CLPG) allele and a phylogenetically closely related wild-type allele. We report that this SNP is in perfect association with the callipyge genotype. The demonstration that Solid Gold-the alleged founder ram of the callipyge flock-is mosaic for this SNP virtually proves the causality of this SNP in the determinism of the callipyge phenotype.</description><identifier>ISSN: 0016-6731</identifier><identifier>ISSN: 1943-2631</identifier><identifier>EISSN: 1943-2631</identifier><identifier>DOI: 10.1093/genetics/163.1.453</identifier><identifier>PMID: 12586730</identifier><identifier>CODEN: GENTAE</identifier><language>eng</language><publisher>United States: Genetics Soc America</publisher><subject>Animals ; Base Sequence ; Causality ; Genetics ; Genetics & genetic processes ; Gold ; Génétique & processus génétiques ; Life sciences ; Molecular Sequence Data ; Mosaicism - genetics ; Muscular Diseases - genetics ; Médecine vétérinaire & santé animale ; Point Mutation ; Sciences du vivant ; Sheep - abnormalities ; Sheep - genetics ; Sheep/abnormalities/genetics ; Veterinary medicine & animal health</subject><ispartof>Genetics (Austin), 2003-01, Vol.163 (1), p.453-456</ispartof><rights>Copyright Genetics Society of America Jan 2003</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c531t-1c814b8b8121acdbc5ec55c45ee608e94c5f841eed91a197daa6a3da3ae46f6a3</citedby><cites>FETCH-LOGICAL-c531t-1c814b8b8121acdbc5ec55c45ee608e94c5f841eed91a197daa6a3da3ae46f6a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12586730$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Smit, Maria</creatorcontrib><creatorcontrib>Segers, Karin</creatorcontrib><creatorcontrib>Carrascosa, Laura Garcia</creatorcontrib><creatorcontrib>Shay, Tracy</creatorcontrib><creatorcontrib>Baraldi, Francesca</creatorcontrib><creatorcontrib>Gyapay, Gabor</creatorcontrib><creatorcontrib>Snowder, Gary</creatorcontrib><creatorcontrib>Georges, Michel</creatorcontrib><creatorcontrib>Cockett, Noelle</creatorcontrib><creatorcontrib>Charlier, Carole</creatorcontrib><title>Mosaicism of Solid Gold Supports the Causality of a Noncoding A-to-G Transition in the Determinism of the Callipyge Phenotype</title><title>Genetics (Austin)</title><addtitle>Genetics</addtitle><description>To identify the callipyge mutation, we have resequenced 184 kb spanning the DLK1-, GTL2-, PEG11-, and MEG8-imprinted domain and have identified an A-to-G transition in a highly conserved dodecamer motif between DLK1 and GTL2. This was the only difference found between the callipyge (CLPG) allele and a phylogenetically closely related wild-type allele. We report that this SNP is in perfect association with the callipyge genotype. The demonstration that Solid Gold-the alleged founder ram of the callipyge flock-is mosaic for this SNP virtually proves the causality of this SNP in the determinism of the callipyge phenotype.</description><subject>Animals</subject><subject>Base Sequence</subject><subject>Causality</subject><subject>Genetics</subject><subject>Genetics & genetic processes</subject><subject>Gold</subject><subject>Génétique & processus génétiques</subject><subject>Life sciences</subject><subject>Molecular Sequence Data</subject><subject>Mosaicism - genetics</subject><subject>Muscular Diseases - genetics</subject><subject>Médecine vétérinaire & santé animale</subject><subject>Point Mutation</subject><subject>Sciences du vivant</subject><subject>Sheep - abnormalities</subject><subject>Sheep - genetics</subject><subject>Sheep/abnormalities/genetics</subject><subject>Veterinary medicine & animal health</subject><issn>0016-6731</issn><issn>1943-2631</issn><issn>1943-2631</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkktv1DAUhSMEoqXwB1igiAW7TH1tJ5NskKopDEjlIbWsLce5k3Hl2MF2OpoF_x3PAwbYsPKVfc5n-96TZS-BzIA07LJHi1GrcAkVm8GMl-xRdg4NZwWtGDzOzgmBqqjmDM6yZyHcE0KqpqyfZmdAyzrtk_PsxycXpFY6DLlb5bfO6C5fOtPlt9M4Oh9DHteYL-QUpNFxuxPJ_LOzynXa9vlVEV2xzO-8tEFH7Wyu7d5xjRH9oO0RfIAYo8dtj_nXNVoXtyM-z56spAn44rheZN_ev7tbfChuviw_Lq5uClUyiAWoGnhbtzVQkKprVYmqLBUvEStSY8NVuao5IHYNSGjmnZSVZJ1kEnm1SuVF9vbAHad2wE6hjV4aMXo9SL8VTmrx94nVa9G7BwG8opyUCcAOAKOxR-F8q8UD3Rv39WR6IZVoUVBa1QIINIwn15vjtd59nzBEMeig0Bhp0U1BpAlQxoH-Vwi7ac33xNf_CO_d5G3qnaDAAWpKIYnoQaS8C8Hj6vdHgYhdcsSv5IiUHAEiJSeZXv3ZopPlGJXTG9e6X2-0RxGGNNEkB7HZbE6kn4DJ0HI</recordid><startdate>20030101</startdate><enddate>20030101</enddate><creator>Smit, Maria</creator><creator>Segers, Karin</creator><creator>Carrascosa, Laura Garcia</creator><creator>Shay, Tracy</creator><creator>Baraldi, Francesca</creator><creator>Gyapay, Gabor</creator><creator>Snowder, Gary</creator><creator>Georges, Michel</creator><creator>Cockett, Noelle</creator><creator>Charlier, Carole</creator><general>Genetics Soc America</general><general>Genetics Society of America</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>4T-</scope><scope>4U-</scope><scope>7QP</scope><scope>7SS</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>M7N</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>Q33</scope><scope>5PM</scope></search><sort><creationdate>20030101</creationdate><title>Mosaicism of Solid Gold Supports the Causality of a Noncoding A-to-G Transition in the Determinism of the Callipyge Phenotype</title><author>Smit, Maria ; 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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford University Press Journals All Titles (1996-Current); Alma/SFX Local Collection |
| subjects | Animals Base Sequence Causality Genetics Genetics & genetic processes Gold Génétique & processus génétiques Life sciences Molecular Sequence Data Mosaicism - genetics Muscular Diseases - genetics Médecine vétérinaire & santé animale Point Mutation Sciences du vivant Sheep - abnormalities Sheep - genetics Sheep/abnormalities/genetics Veterinary medicine & animal health |
| title | Mosaicism of Solid Gold Supports the Causality of a Noncoding A-to-G Transition in the Determinism of the Callipyge Phenotype |
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