التفاصيل البيبلوغرافية
| العنوان: |
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. |
| المؤلفون: |
Caduff, M., Bauer, A., Jagannathan, V., Leeb, T. |
| المصدر: |
Animal Genetics; Oct2017, Vol. 48 Issue 5, p619-621, 3p |
| مصطلحات موضوعية: |
BULLMASTIFF, ALBINOS & albinism, DELETION mutation, NUCLEOTIDE sequencing, GENOTYPES, PHENOTYPES |
| مستخلص: |
Oculocutaneous albinism type 4 ( OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter. In dog, two independent SLC45A2 variants are known that cause oculocutaneous albinism in Doberman Pinschers and several small dog breeds respectively. For the present study, we investigated a Bullmastiff with oculocutaneous albinism. The affected dog was highly inbred and resulted from the mating of a sire to its own grandmother. We obtained whole genome sequence data from the affected dog and searched specifically for variants in candidate genes known to cause albinism. We detected a single base deletion in exon 6 of the SLC45A2 gene ( NM_001037947.1:c.1287delC) that has not been reported thus far. This deletion is predicted to result in an early premature stop codon. It was confirmed by Sanger sequencing and perfectly co-segregated with the phenotype in the available family members. We genotyped 174 unrelated dogs from diverse breeds, all of which were homozygous wildtype. We therefore suggest that SLC45A2:c.1287delC causes the observed oculocutaneous albinism in the affected Bullmastiff. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
