دورية أكاديمية
A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and sunshine, in compound heterozygote horses.
| العنوان: | A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and sunshine, in compound heterozygote horses. |
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| المؤلفون: | Holl HM; Etalon Inc, Menlo Park, CA, 94025, USA.; Department of Animal Sciences, University of Florida, Gainesville, FL, 32607, USA., Pflug KM; Department of Animal Sciences, University of Florida, Gainesville, FL, 32607, USA., Yates KM; Department of Animal Sciences, University of Florida, Gainesville, FL, 32607, USA., Hoefs-Martin K; Etalon Inc, Menlo Park, CA, 94025, USA., Shepard C; Etalon Inc, Menlo Park, CA, 94025, USA., Cook DG; Etalon Inc, Menlo Park, CA, 94025, USA.; Biology Department, Morehead State University, Morehead, KY, 40351, USA., Lafayette C; Etalon Inc, Menlo Park, CA, 94025, USA., Brooks SA; Etalon Inc, Menlo Park, CA, 94025, USA.; Department of Animal Sciences, University of Florida, Gainesville, FL, 32607, USA. |
| المصدر: | Animal genetics [Anim Genet] 2019 Jun; Vol. 50 (3), pp. 271-274. Date of Electronic Publication: 2019 Apr 21. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2052 (Electronic) Linking ISSN: 02689146 NLM ISO Abbreviation: Anim Genet |
| أسماء مطبوعة: | Publication: Oxford, England : Wiley-Blackwell Original Publication: Oxford, England : Published by Blackwell Scientific Publications for the International Society for Animal Blood Group Research, c1986- |
| مواضيع طبية MeSH: | Hair Color*, Horses/*genetics , Membrane Transport Proteins/*genetics, Animals ; Heterozygote ; Pigmentation |
| مستخلص: | Variations in the SLC45A2 gene are responsible for the dilution phenotypes cream and pearl in domestic horses. Cream dilution is inherited in an incomplete dominant manner, diluting only red in the heterozygous state but both red and black pigments when two alleles are present. The pearl dilution is recessive and dilutes only the red and black pigment in the homozygous state or when paired with a cream allele. Horses that inherit one copy of pearl (C prl ) and one copy of the dominant cream allele (C C r ) display a dilution phenotype similar to that of homozygous cream, suggesting that pearl is the result of a different variation in the same gene responsible for cream. We sequenced SLC45A2 in two 'false double dilute' horses that appeared phenotypically homozygous cream but tested as possessing only a single C C r allele. We also sequenced one known pearl carrier to screen for putative causal variants. The missense variant ECA21:SLC45A2:c.985G>A; p.Ala329Thr (C prl ) was present in one false double dilute and the pearl carrier and was also genotyped in an additional 126 horses for statistical evaluation. The genotype matched the expected phenotype in all horses (P-value = 6.5 × 10 -41 ) and is identical to a pearl variant found previously. The second false double dilute horse and one non-dilute offspring genotyped as heterozygous for a novel missense variant ECA21:SLC45A2:c.568G>A (p.Gly190Arg), the proposed C sun variant (for the name of the horse). This variant produces a recessive dilution similar to pearl and indicates that multiple alleles of SLC45A2 result in dilution phenotypes in the domestic horse. (© 2019 The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics.) |
| فهرسة مساهمة: | Keywords: coat color; color dilution; cremello; double dilute; perlino |
| سلسلة جزيئية: | GENBANK EU272794; MF696163; MF688761 |
| المشرفين على المادة: | 0 (Membrane Transport Proteins) |
| تواريخ الأحداث: | Date Created: 20190423 Date Completed: 20190802 Latest Revision: 20190802 |
| رمز التحديث: | 20240829 |
| DOI: | 10.1111/age.12790 |
| PMID: | 31006892 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1365-2052 |
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| DOI: | 10.1111/age.12790 |