ABCMdb

ABCA1 p.Trp449Gly

Predicted by SNAP2:	A: D (63%), C: D (66%), D: D (85%), E: D (80%), F: N (72%), G: D (85%), H: D (85%), I: N (72%), K: D (80%), L: N (87%), M: N (66%), N: D (80%), P: D (75%), Q: D (71%), R: D (63%), S: D (75%), T: D (75%), V: N (66%), Y: N (61%),
Predicted by PROVEAN:	A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, Y: N,

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Publications
[hide] Novel genes as primary triggers for polygenic hype... J Hypertens. 2012 Jan;30(1):81-6. Chauvet C, Menard A, Xiao C, Aguila B, Blain M, Roy J, Deng AY
Novel genes as primary triggers for polygenic hypertension.
J Hypertens. 2012 Jan;30(1):81-6., [PMID:22124177]

Abstract [show]
OBJECTIVES: The discovery of causative genes leading to hypertension in animal models can reveal new mechanistic insights into blood pressure (BP) regulations. Previously, we isolated segments that harbor BP quantitative trait loci (QTLs) on rat chromosome 10 as defined by congenic strains made from crosses of inbred hypertensive Dahl salt-sensitive (DSS) and normotensive Lewis rats. The aim of the current study was to identify hypertension-causing genes for each QTL. METHODS: Molecular analysis was performed. RESULTS: A systematic and comprehensive molecular analysis divulged particular genes that carry nonconserved mutations. Specifically, the proline rich 11 gene is likely responsible for C10QTL5. C10QTL1 is one of five genes, namely Benzodiazepine receptor associated protein 1, Loc689764, myotubularin related protein 4, protein phosphatase 1E, PP2C domain containing and ring finger protein 43. Loc100363423 with no known function is a candidate for C10QTL3. The ATP-binding cassette, subfamily A (ABC1), member 8a gene is probably responsible for C10QTL2. CONCLUSIONS: Primary genes initiating polygenic hypertension are those not known to be involved in BP modulation. Novel pathways towards BP homeostasis appear to underlie the functionality of C10QTL5, C10QTL1 and C10QTL3 and C10QTL2. Moreover, these genes may become innovative targets for the diagnosis and therapeutics of essential hypertension.

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Sentences [show]
No. Sentence Comment
49 of exons Size of codons (bp) Mutation Lewis/DSS Exon # Change in amino acid Lewis/DSS Ppm1e 16 515 911 16 673 657 7 2253 C335G 1 Pro112Arg Rad51c 16 691 410 16 717 574 9 1101 No Tex14 16 741 622 16 844 002 30 4335 C141G No G2592A No T3423C No C4215T No Loc689764 16 855 064 16 867 521 5 1587 G627A 2 Pro210Ser C628T 4 Trp448Gly T1342G 4 Trp449Gly G1344D 4 Trp449Gly T1345D Sept4 16 870 627 16 880 083 9 939 No Mtmr4 16 882 731 16 905 645 18 3576 A357G 15 No A2212G Ser738Gly A2640G No Rnf43 16 956 997 17 026 597 9 2349 A1103G 8 Gln368Arg Supt4h1 17 030 011 17 036 193 5 353 No Rno-mir142 17 048 485 17 048 571 No Loc100363076 17 048 316 17 048 912 1 314 No Bzrap1 17 052 666 17 073 840 31 5539 A4664G 22 His1555Arg T5060C 25 Ile1687Thr Mpo 17 085 077 17 096 217 8 1376 No Genes are defined by the congenic strain C10S.L30 (Supplement 30, http://links.lww.com/HJH/A137). Login to comment