He Qiang, Yu Jie, Kim Tae-Sung, Cho Yoo-Hyun, Lee Young-Sang, Park Yong-Jin
Department of Plant Resources, College of Industrial Science, Kongju National University, Yesan, Republic of Korea.
Department of Plant Resources, College of Industrial Science, Kongju National University, Yesan, Republic of Korea; Seedpia, 85 Maesil-ro, Kwonsun-ku, Suwon, Republic of Korea.
PLoS One. 2015 Aug 10;10(8):e0134801. doi: 10.1371/journal.pone.0134801. eCollection 2015.
BADH1 and BADH2 are two homologous genes, encoding betaine aldehyde dehydrogenase in rice. In the present study, we scanned BADHs sequences of 295 rice cultivars, and 10 wild rice accessions to determine the polymorphisms, gene functions and domestication of these two genes. A total of 16 alleles for BADH1 and 10 alleles for BADH2 were detected in transcribed region of cultivars and wild species. Association study showed that BADH1 has significant correlation with salt tolerance in rice during germination stage, the SNP (T/A) in exon 4 is highly correlated with salt tolerance index (STI) (P<10(-4)). While, BADH2 was only responsible for rice fragrance, of which two BADH2 alleles (8 bp deletion in exon 7 and C/T SNP in exon 13) explain 97% of aroma variation in our germplasm. Theses indicate that there are no overlapping functions between the two homologous genes. In addition, a large LD block was detected in BADH2 region, however, there was no large LD blocks in a 4-Mb region of BADH1. We found that BADH2 region only showed significant bias in Tajima's D value from the balance. Extended haplotype homozygosity study revealed fragrant accessions had a large LD block that extended around the mutation site (8 bp deletion in exon 7) of BADH2, while both of the BADH1 alleles (T/A in exon 4) did not show large extended LD block. All these results suggested that BADH2 was domesticated during rice evolution, while BADH1 was not selected by human beings.
BADH1和BADH2是两个同源基因,在水稻中编码甜菜碱醛脱氢酶。在本研究中,我们扫描了295个水稻品种和10份野生稻种质的BADHs序列,以确定这两个基因的多态性、基因功能和驯化情况。在栽培品种和野生种的转录区域共检测到16个BADH1等位基因和10个BADH2等位基因。关联分析表明,BADH1与水稻萌发期的耐盐性显著相关,第4外显子中的SNP(T/A)与耐盐指数(STI)高度相关(P<10(-4))。而BADH2仅决定水稻香味,其中两个BADH2等位基因(第7外显子8bp缺失和第13外显子C/T SNP)解释了我们种质中97% 的香气变异。这些结果表明这两个同源基因之间不存在重叠功能。此外,在BADH2区域检测到一个大的连锁不平衡(LD)块,然而,在BADH1的4-Mb区域没有大的LD块。我们发现BADH2区域在Tajima's D值上仅显示出偏离平衡的显著偏差。扩展单倍型纯合性研究表明,香稻种质在BADH2的突变位点(第7外显子8bp缺失)周围有一个延伸的大LD块,而BADH1的两个等位基因(第4外显子T/A)均未显示出大的延伸LD块。所有这些结果表明,BADH2在水稻进化过程中被驯化,而BADH1未被人类选择。