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在黄芥菜中，FAD2 启动子、内含子和 CDS 的突变产生了多种等位基因，从而调节亚油酸水平。

Mutations in the promoter, intron and CDS of two FAD2 generate multiple alleles modulating linoleic acid level in yellow mustard.

机构信息

Agriculture and Agri-Food Canada, Saskatoon Research and Development Centre, 107 Science Place, Saskatoon, SK, S7N 0X2, Canada.

出版信息

Sci Rep. 2017 Aug 15;7(1):8284. doi: 10.1038/s41598-017-08317-y.

DOI:10.1038/s41598-017-08317-y
PMID:28811544
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5557838/
Abstract

Linoleic acid (C18:2) is an important polyunsaturated fatty acid in the seed oil of many crops. Here, we report that mutations in the promoter, intron and CDS of the FAD2 genes SalFAD2.LIA1 and SalFAD2.LIA2 generate three alleles LIA , LIA and lia and two alleles LIA and lia , respectively, controlling the C18:2 variation (4.4-32.7%) in yellow mustard. The allelic effect on increasing C18:2 content is LIA  > LIA  > lia , LIA  > lia , and LIA  > LIA . The five FAD 2 alleles each contain two exons, one intron and a promoter adjacent to exon 1. LIA has a 1152 bp CDS, a 1221 bp intron with promoter function and a 607 bp promoter. Compared with LIA , the intron of LIA has reduced promoter activity and that of LIA and lia has no promoter function due to extensive SNP and indel mutations. lia differed from LIA by having an insertion of 1223 bp retrotransposon in its intron. lia with mutations in the promoter has reduced promoter activity compared with LIA . This study revealed that complex quantitative variation of trait phenotype in plants could be modulated by multiple alleles of oligogenic loci resulting from mutations in the regulatory region and CDS.

摘要

亚油酸（C18:2）是许多作物种子油中的一种重要多不饱和脂肪酸。在这里，我们报告 FAD2 基因 SalFAD2.LIA1 和 SalFAD2.LIA2 的启动子、内含子和 CDS 中的突变分别产生三个等位基因 LIA 、 LIA 和 lia ，以及两个等位基因 LIA 和 lia ，分别控制黄芥末中 C18:2 的变化（4.4-32.7%）。等位基因对增加 C18:2 含量的效应为 LIA  > LIA  > lia 、 LIA  > lia 、和 LIA  > LIA 。这五个 FAD 2 等位基因每个都包含两个外显子、一个内含子和一个紧邻外显子 1 的启动子。LIA 有一个 1152bp 的 CDS、一个具有启动子功能的 1221bp 内含子和一个 607bp 的启动子。与 LIA 相比，LIA 的内含子由于广泛的 SNP 和插入缺失突变而降低了启动子活性，而 LIA 和 lia 的内含子则没有启动子功能。lia 与其内含子相比，在其内含子中插入了 1223bp 的逆转录转座子。与 LIA 相比，具有启动子突变的 lia 降低了启动子活性。本研究表明，植物表型性状的复杂数量变化可以通过调控区和 CDS 突变导致的寡基因座的多个等位基因来调节。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/f977ac477f78/41598_2017_8317_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/5d74a3c77c2e/41598_2017_8317_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/087f5b56fbd5/41598_2017_8317_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/bfff91c33119/41598_2017_8317_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/dca948c20eb2/41598_2017_8317_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/8dba3025f492/41598_2017_8317_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/f977ac477f78/41598_2017_8317_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/5d74a3c77c2e/41598_2017_8317_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/087f5b56fbd5/41598_2017_8317_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/bfff91c33119/41598_2017_8317_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/dca948c20eb2/41598_2017_8317_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/8dba3025f492/41598_2017_8317_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86a/5557838/f977ac477f78/41598_2017_8317_Fig6_HTML.jpg

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