ABCMdb

ABCB1 p.Met1Val

Predicted by SNAP2:	A: N (66%), C: N (87%), D: N (53%), E: N (61%), F: N (78%), G: N (66%), H: N (78%), I: N (93%), K: N (82%), L: N (93%), N: N (72%), P: N (66%), Q: N (82%), R: N (72%), S: N (78%), T: N (82%), V: N (87%), W: N (72%), Y: N (78%),
Predicted by PROVEAN:	A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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Publications
[hide] Polymorphisms in the ABCB1 gene in phenobarbital r... J Vet Intern Med. 2011 May-Jun;25(3):484-9. doi: 10.1111/j.1939-1676.2011.0718.x. Epub 2011 Apr 12. Alves L, Hulsmeyer V, Jaggy A, Fischer A, Leeb T, Drogemuller M
Polymorphisms in the ABCB1 gene in phenobarbital responsive and resistant idiopathic epileptic Border Collies.
J Vet Intern Med. 2011 May-Jun;25(3):484-9. doi: 10.1111/j.1939-1676.2011.0718.x. Epub 2011 Apr 12., [PMID:21488961]

Abstract [show]
BACKGROUND: Variation in the ABCB1 gene is believed to play a role in drug resistance in epilepsy. HYPOTHESIS/OBJECTIVES: Variation in the ABCB1 gene encoding the permeability-glycoprotein could have an influence on phenobarbital (PB) resistance, which occurs with high frequency in idiopathic epileptic Border Collies (BCs). Animals: Two hundred and thirty-six client-owned BCs from Switzerland and Germany including 25 with idiopathic epilepsy, of which 13 were resistant to PB treatment. METHODS: Prospective and retrospective case-control study. Data were collected retrospectively regarding disease status, antiepileptic drug (AED) therapy, and drug responsiveness. The frequency of a known mutation in the ABCB1 gene (4 base-pair deletion in the ABCB1 gene [c.296_299del]) was determined in all BCs. Additionally, the ABCB1 coding exons and flanking sequences were completely sequenced to search for additional variation in 41 BCs. Association analyses were performed in 2 case-control studies: idiopathic epileptic and control BCs and PB-responsive and resistant idiopathic epileptic BCs. RESULTS: One of 236 BCs (0.4%) was heterozygous for the mutation in the ABCB1 gene (c.296_299del). A total of 23 variations were identified in the ABCB1 gene: 4 in exons and 19 in introns. The G-allele of the c.-6-180T > G variation in intron 1 was significantly more frequent in epileptic BCs resistant to PB treatment than in epileptic BCs responsive to PB treatment (P(raw) = .0025). CONCLUSIONS AND CLINICAL IMPORTANCE: A variation in intron 1 of the ABCB1 gene is associated with drug responsiveness in BCs. This might indicate that regulatory mutations affecting the expression level of ABCB1 could exist, which may influence the reaction of a dog to AEDs.

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Sentences [show]
No. Sentence Comment
73 The SNP in exon 26, c.3439A 4 G, results in a conservative amino acid exchange from methionine to valine at position 1,147 (p.M1147 V). Login to comment