Torigoe Daisuke, Asano Atsushi, Yamauchi Hideto, Ruiha Dang, Sasaki Nobuya, Agui Takashi
Laboratory of Laboratory Animal Science and Medicine, Department of Disease Control, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo 060-0818, Japan.
Jpn J Vet Res. 2010 Feb;57(4):175-84.
The hooded phenotype is one of the coat color phenotype seen peculiarly in the rat. The hooded locus showing autosomal recessive inheritance is mapped to chromosome (Chr) 14 and that the hooded phenotype receives modification by hooded-modifier gene showing the linkage to the hooded locus. However, a gene responsible for either the hooded or hooded-modifier gene is not yet identified. To clarify genetic control of hooded phenotype, we carried out genetic linkage studies using BN and LEA rats. For determination of phenotypic variation, we measured ratio of pigmented coat area in parental and their F1 and F2 rats. We, then, conducted a genome-wide scan on 152 F2 rats for linkage with ratio of pigmented coat area for the dorsal, ventral, and total regions. A major quantitative trait locus (QTL), D14Got40, showing highly significant linkage contributing 70-90% of the variance for hooded phenotype was detected on Chr 14, which may be correspondent to the hooded locus. In addition, another QTL, D17Rat2, showing highly significant linkage was also detected on Chr 17 in dorsal region phenotype as well as a QTL showing suggestive linkage on Chr15 in ventral region phenotype. We, further, investigated a genome-wide scan for epistatic interactions and detected significant interactions between D14Got40 and D20Mit1, and between D14Got40 and D17Rat2 in the dorsal region phenotype. These results suggest that a major QTL in Chr 14, which is possibly correspondent to the hooded locus, mainly regulates the hooded phenotype with some modifier loci, two of which show epistatic interactions with the hooded locus.
头巾样表型是大鼠特有的毛色表型之一。显示常染色体隐性遗传的头巾样基因座被定位到第14号染色体(Chr),并且头巾样表型受到与头巾样基因座连锁的头巾样修饰基因的修饰。然而,负责头巾样或头巾样修饰基因的基因尚未确定。为了阐明头巾样表型的遗传控制,我们使用BN和LEA大鼠进行了遗传连锁研究。为了确定表型变异,我们测量了亲本及其F1和F2大鼠有色被毛区域的比例。然后,我们对152只F2大鼠进行了全基因组扫描,以寻找与背部、腹部和全身区域有色被毛区域比例的连锁关系。在第14号染色体上检测到一个主要的数量性状基因座(QTL)D14Got40,它显示出高度显著的连锁关系,对头巾样表型的方差贡献了70-90%,这可能与头巾样基因座相对应。此外,在第17号染色体的背部区域表型中还检测到另一个显示高度显著连锁的QTL D17Rat2,以及在第15号染色体的腹部区域表型中检测到一个显示提示性连锁的QTL。我们进一步研究了全基因组扫描以寻找上位性相互作用,并在背部区域表型中检测到D14Got40与D20Mit1之间以及D14Got40与D17Rat2之间的显著相互作用。这些结果表明,第14号染色体上的一个主要QTL可能与头巾样基因座相对应,它主要通过一些修饰基因座调节头巾样表型,其中两个修饰基因座与头巾样基因座显示上位性相互作用。