کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5905591 | 1159908 | 2015 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genetic variants in ABCA1 promoter affect transcription activity and plasma HDL level in pigs
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کلمات کلیدی
HDLABCA1ApoA-IPPARRCTRXRsLXRsApolipoprotein A-I - آپولیپوپروتئین A-Iactivator protein - پروتئین فعال کنندهPromoter - پروموترPolymorphisms - پلی مورفیسمSingle nucleotide polymorphism - پلیمورفیسم تک نوکلئوتیدیSNP - چندریختی تک-نوکلئوتیدreverse cholesterol transport - کلسترول معکوس حمل و نقلperoxisome proliferator-activated receptor - گیرنده فعال فعال پروکسیومLiver X receptors - گیرنده های کبد X
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Excess accumulation of cholesterol in plasma may result in coronary artery disease. Numerous studies have demonstrated that ATP-binding cassette protein A1 (ABCA1) mediates the efflux of cholesterol and phospholipids to apolipoproteins, a process necessary for plasma high density lipoprotein (HDL) formation. Higher plasma levels of HDL are associated with lower risk for cardiovascular disease. Studies of human disease and animal models had shown that an increased hepatic ABCA1 activity relates to an enhanced plasma HDL level. In this study, we hypothesized that functional mutations in the ABCA1 promoter in pigs may affect gene transcription activity, and consequently the HDL level in plasma. The promoter region of ABCA1 was comparatively scanned by direct sequencing with pool DNA of high- and low-HDL groups (n = 30 for each group). Two polymorphisms, c. â  608A > G and c. â  418 T > A, were revealed with reverse allele distribution in the two groups. The two polymorphisms were completely linked and formed only G-A or A-T haplotypes when genotyped in a larger population (n = 526). Furthermore, we found that the G-A/G-A genotype was associated with higher HDL and ABCA1 mRNA level than A-T/A-T genotype. Luciferase assay also revealed that G-A haplotype promoter had higher activity than A-T haplotype. Single-nucleotide mutant assay showed that c.- 418 T > A was the causal mutation for ABCA1 transcription activity alteration. Conclusively, we identified two completely linked SNPs in porcine ABCA1 promoter region which have influence on the plasma HDL level by altering ABCA1 gene transcriptional activity.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 555, Issue 2, 25 January 2015, Pages 414-420
Journal: Gene - Volume 555, Issue 2, 25 January 2015, Pages 414-420
نویسندگان
Xiao-yong Dang, Wei-wei Chu, Heng-chuan Shi, Shi-gang Yu, Hai-yin Han, Shu-hua Gu, Jie Chen,