A missense mutation in <it>growth differentiation factor 9</it> (<it>GDF9</it>) is strongly associated with litter size in sheep
<p>Abstract</p> <p>Background</p> <p>A genome wide association study for litter size in Norwegian White Sheep (NWS) was conducted using the recently developed ovine 50K SNP chip from Illumina. After genotyping 378 progeny tested artificial insemination (AI) rams, a GWAS...
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| Format: | Article |
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BMC
2013-01-01
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| Series: | BMC Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2156/14/1 |
| _version_ | 1811291037800333312 |
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| author | Våge Dag I Husdal Maren Kent Matthew P Klemetsdal Gunnar Boman Inger A |
| author_facet | Våge Dag I Husdal Maren Kent Matthew P Klemetsdal Gunnar Boman Inger A |
| author_sort | Våge Dag I |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>A genome wide association study for litter size in Norwegian White Sheep (NWS) was conducted using the recently developed ovine 50K SNP chip from Illumina. After genotyping 378 progeny tested artificial insemination (AI) rams, a GWAS analysis was performed on estimated breeding values (EBVs) for litter size.</p> <p>Results</p> <p>A QTL-region was identified on sheep chromosome 5, close to the <it>growth differentiation factor 9 (GDF9),</it> which is known to be a strong candidate gene for increased ovulation rate/litter size. Sequencing of the <it>GDF9</it> coding region in the most extreme sires (high and low BLUP values) revealed a single nucleotide polymorphism (c.1111G>A), responsible for a Val→Met substitution at position 371 (V371M). This polymorphism has previously been identified in Belclare and Cambridge sheep, but was not found to be associated with fertility. In our NWS-population the c.1111G>A SNP showed stronger association with litter size than any other single SNP on the Illumina 50K ovine SNP chip. Based on the estimated breeding values, daughters of AI rams homozygous for c.1111A will produce minimum 0.46 - 0.57 additional lambs compared to daughters of wild-type rams.</p> <p>Conclusion</p> <p>We have identified a missense mutation in the bioactive part of the GDF9 protein that shows strong association with litter size in NWS. Based on the NWS breeding history and the marked increase in the c.1111A allele frequency in the AI ram population since 1983, we hypothesize that c.1111A allele originate from Finnish landrace imported to Norway around 1970. Because of the widespread use of Finnish landrace and the fact that the ewes homozygous for the c.1111A allele are reported to be fertile, we expect the commercial impact of this mutation to be high.</p> |
| first_indexed | 2024-04-13T04:22:27Z |
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| id | doaj.art-bb08b13d697040b4955f97cd0bce5f4c |
| institution | Directory Open Access Journal |
| issn | 1471-2156 |
| language | English |
| last_indexed | 2024-04-13T04:22:27Z |
| publishDate | 2013-01-01 |
| publisher | BMC |
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| series | BMC Genetics |
| spelling | doaj.art-bb08b13d697040b4955f97cd0bce5f4c2022-12-22T03:02:40ZengBMCBMC Genetics1471-21562013-01-01141110.1186/1471-2156-14-1A missense mutation in <it>growth differentiation factor 9</it> (<it>GDF9</it>) is strongly associated with litter size in sheepVåge Dag IHusdal MarenKent Matthew PKlemetsdal GunnarBoman Inger A<p>Abstract</p> <p>Background</p> <p>A genome wide association study for litter size in Norwegian White Sheep (NWS) was conducted using the recently developed ovine 50K SNP chip from Illumina. After genotyping 378 progeny tested artificial insemination (AI) rams, a GWAS analysis was performed on estimated breeding values (EBVs) for litter size.</p> <p>Results</p> <p>A QTL-region was identified on sheep chromosome 5, close to the <it>growth differentiation factor 9 (GDF9),</it> which is known to be a strong candidate gene for increased ovulation rate/litter size. Sequencing of the <it>GDF9</it> coding region in the most extreme sires (high and low BLUP values) revealed a single nucleotide polymorphism (c.1111G>A), responsible for a Val→Met substitution at position 371 (V371M). This polymorphism has previously been identified in Belclare and Cambridge sheep, but was not found to be associated with fertility. In our NWS-population the c.1111G>A SNP showed stronger association with litter size than any other single SNP on the Illumina 50K ovine SNP chip. Based on the estimated breeding values, daughters of AI rams homozygous for c.1111A will produce minimum 0.46 - 0.57 additional lambs compared to daughters of wild-type rams.</p> <p>Conclusion</p> <p>We have identified a missense mutation in the bioactive part of the GDF9 protein that shows strong association with litter size in NWS. Based on the NWS breeding history and the marked increase in the c.1111A allele frequency in the AI ram population since 1983, we hypothesize that c.1111A allele originate from Finnish landrace imported to Norway around 1970. Because of the widespread use of Finnish landrace and the fact that the ewes homozygous for the c.1111A allele are reported to be fertile, we expect the commercial impact of this mutation to be high.</p>http://www.biomedcentral.com/1471-2156/14/1 |
| spellingShingle | Våge Dag I Husdal Maren Kent Matthew P Klemetsdal Gunnar Boman Inger A A missense mutation in <it>growth differentiation factor 9</it> (<it>GDF9</it>) is strongly associated with litter size in sheep BMC Genetics |
| title | A missense mutation in <it>growth differentiation factor 9</it> (<it>GDF9</it>) is strongly associated with litter size in sheep |
| title_full | A missense mutation in <it>growth differentiation factor 9</it> (<it>GDF9</it>) is strongly associated with litter size in sheep |
| title_fullStr | A missense mutation in <it>growth differentiation factor 9</it> (<it>GDF9</it>) is strongly associated with litter size in sheep |
| title_full_unstemmed | A missense mutation in <it>growth differentiation factor 9</it> (<it>GDF9</it>) is strongly associated with litter size in sheep |
| title_short | A missense mutation in <it>growth differentiation factor 9</it> (<it>GDF9</it>) is strongly associated with litter size in sheep |
| title_sort | missense mutation in it growth differentiation factor 9 it it gdf9 it is strongly associated with litter size in sheep |
| url | http://www.biomedcentral.com/1471-2156/14/1 |
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