association of an acsl1 gene variant with polyunsaturated fatty acids in bovine skeletal muscle协会的acsl1基因变异与多不饱和脂肪酸在牛骨骼肌.pdfVIP

Widmann et al. BMC Genetics 2011, 12:96 /1471-2156/12/96 RESEARCH ARTICLE Open Access Association of an ACSL1 gene variant with polyunsaturated fatty acids in bovine skeletal muscle 1 2 1 1* Philipp Widmann , Karin Nuernberg , Christa Kuehn and Rosemarie Weikard Abstract Background: The intramuscular fat deposition and the fatty acid profiles of beef affect meat quality. High proportions of unsaturated fatty acids are related to beef flavor and are beneficial for the nutritional value of meat. Moreover, a variety of clinical and epidemiologic studies showed that particularly long-chain omega-3 fatty acids from animal sources have a positive impact on human health and disease. Results: To screen for genetic factors affecting fatty acid profiles in beef, we initially performed a microsatellite- based genome scan in a F2 Charolais × German Holstein resource population and identified a quantitative trait locus (QTL) for fatty acid composition in a region on bovine chromosome 27 where previously QTL affecting marbling score had been detected in beef cattle populations. The long-chain acyl-CoA synthetase 1 (ACSL1) gene was identified as the most plausible functional and positional candidate gene in the QTL interval due to its direct impact on fatty acid metabolism and its position in the QTL interval. ACSL1 is necessary for synthesis of long-chain acyl-CoA esters, fatty acid degradation and phospholipid remodeling. We validated the genomic annotation of the bovine ACSL1 gene by in silico comparative sequence analysis and experimental verification. Re-sequencing of the complete coding, exon-flanking intronic sequences, 3’ untranslated region (3’UTR) and partial promoter region of the ACSL1 gene revealed three s