An insertion in the coding region of the <it>myostatin </it>(<it>MSTN</it>) gene affects carcass conformation and fatness in the Norwegian Spælsau (<it>Ovis aries</it>)
<p>Abstract</p> <p>Background</p> <p>A phenotype of increased muscle mass (IMM) and reduced fat, comparable to reported effects of deleterious mutations in the <it>myostatin </it>gene (<it>MSTN</it>), has been observed in the Norwegian Spælsau br...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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BMC
2009-06-01
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| Series: | BMC Research Notes |
| Online Access: | http://www.biomedcentral.com/1756-0500/2/98 |
| _version_ | 1811279324627599360 |
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| author | Våge Dag I Boman Inger A |
| author_facet | Våge Dag I Boman Inger A |
| author_sort | Våge Dag I |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>A phenotype of increased muscle mass (IMM) and reduced fat, comparable to reported effects of deleterious mutations in the <it>myostatin </it>gene (<it>MSTN</it>), has been observed in the Norwegian Spælsau breed. However, the genotyping of five AI rams producing descendants with this phenotype, failed to reveal any of the known functional <it>MSTN </it>mutations.</p> <p>Findings</p> <p>In the present study, the coding region of the <it>MSTN </it>gene was sequenced in a Spælsau ram lamb with this particular phenotype. A one base-pair insertion mutation (<it>c.120insA</it>) producing a premature stop codon in amino acid position 49 was identified. The consequence of this mutation is that the bioactive carboxy-terminal end of the protein is not translated, and a completely non-functional myostatin protein is produced. Among the 98 available AI rams of this breed, all five individuals having descendants with this particular phenotype were found to be heterozygous for the <it>c.120insA </it>mutation. The probability that these five selected AI rams should be heterozygous carriers of the <it>c.120insA </it>mutation purely by chance was calculated to be 3.1 × 10<sup>-7</sup>. In total, 7 AI rams were found to be heterozygous carriers of <it>c.120insA</it>. The estimated breeding values (EBVs) for EUROP carcass conformation and fat class for these 7 individuals also points towards a strong phenotypic effect of this mutation.</p> <p>Conclusion</p> <p>Based upon the completely deleterious effect this novel <it>c.120insA </it>mutation has on myostatin protein function, and the documented phenotypic effect of comparable <it>MSTN </it>mutations in Norwegian White Sheep and other species, we conclude that this mutation is the functional explanation underlying the IMM phenotype in Norwegian Spælsau. The allele distribution among the 98 genotyped AI rams support this conclusion, and also suggests that <it>c.120insA </it>is the most common reason for this phenotype in the Norwegian Spælsau breed.</p> |
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| format | Article |
| id | doaj.art-d61474f0133e4285b9f32babeb99f099 |
| institution | Directory Open Access Journal |
| issn | 1756-0500 |
| language | English |
| last_indexed | 2024-04-13T00:51:28Z |
| publishDate | 2009-06-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Research Notes |
| spelling | doaj.art-d61474f0133e4285b9f32babeb99f0992022-12-22T03:09:51ZengBMCBMC Research Notes1756-05002009-06-01219810.1186/1756-0500-2-98An insertion in the coding region of the <it>myostatin </it>(<it>MSTN</it>) gene affects carcass conformation and fatness in the Norwegian Spælsau (<it>Ovis aries</it>)Våge Dag IBoman Inger A<p>Abstract</p> <p>Background</p> <p>A phenotype of increased muscle mass (IMM) and reduced fat, comparable to reported effects of deleterious mutations in the <it>myostatin </it>gene (<it>MSTN</it>), has been observed in the Norwegian Spælsau breed. However, the genotyping of five AI rams producing descendants with this phenotype, failed to reveal any of the known functional <it>MSTN </it>mutations.</p> <p>Findings</p> <p>In the present study, the coding region of the <it>MSTN </it>gene was sequenced in a Spælsau ram lamb with this particular phenotype. A one base-pair insertion mutation (<it>c.120insA</it>) producing a premature stop codon in amino acid position 49 was identified. The consequence of this mutation is that the bioactive carboxy-terminal end of the protein is not translated, and a completely non-functional myostatin protein is produced. Among the 98 available AI rams of this breed, all five individuals having descendants with this particular phenotype were found to be heterozygous for the <it>c.120insA </it>mutation. The probability that these five selected AI rams should be heterozygous carriers of the <it>c.120insA </it>mutation purely by chance was calculated to be 3.1 × 10<sup>-7</sup>. In total, 7 AI rams were found to be heterozygous carriers of <it>c.120insA</it>. The estimated breeding values (EBVs) for EUROP carcass conformation and fat class for these 7 individuals also points towards a strong phenotypic effect of this mutation.</p> <p>Conclusion</p> <p>Based upon the completely deleterious effect this novel <it>c.120insA </it>mutation has on myostatin protein function, and the documented phenotypic effect of comparable <it>MSTN </it>mutations in Norwegian White Sheep and other species, we conclude that this mutation is the functional explanation underlying the IMM phenotype in Norwegian Spælsau. The allele distribution among the 98 genotyped AI rams support this conclusion, and also suggests that <it>c.120insA </it>is the most common reason for this phenotype in the Norwegian Spælsau breed.</p>http://www.biomedcentral.com/1756-0500/2/98 |
| spellingShingle | Våge Dag I Boman Inger A An insertion in the coding region of the <it>myostatin </it>(<it>MSTN</it>) gene affects carcass conformation and fatness in the Norwegian Spælsau (<it>Ovis aries</it>) BMC Research Notes |
| title | An insertion in the coding region of the <it>myostatin </it>(<it>MSTN</it>) gene affects carcass conformation and fatness in the Norwegian Spælsau (<it>Ovis aries</it>) |
| title_full | An insertion in the coding region of the <it>myostatin </it>(<it>MSTN</it>) gene affects carcass conformation and fatness in the Norwegian Spælsau (<it>Ovis aries</it>) |
| title_fullStr | An insertion in the coding region of the <it>myostatin </it>(<it>MSTN</it>) gene affects carcass conformation and fatness in the Norwegian Spælsau (<it>Ovis aries</it>) |
| title_full_unstemmed | An insertion in the coding region of the <it>myostatin </it>(<it>MSTN</it>) gene affects carcass conformation and fatness in the Norwegian Spælsau (<it>Ovis aries</it>) |
| title_short | An insertion in the coding region of the <it>myostatin </it>(<it>MSTN</it>) gene affects carcass conformation and fatness in the Norwegian Spælsau (<it>Ovis aries</it>) |
| title_sort | insertion in the coding region of the it myostatin it it mstn it gene affects carcass conformation and fatness in the norwegian spaelsau it ovis aries it |
| url | http://www.biomedcentral.com/1756-0500/2/98 |
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