Mapping of genetic modifiers of Plcd1 in scant hair mice(snthr^(1Bao))  

作　　者：WU BaoJin ZENG YongMei MAO HuiHua YIN LiJing ZHU Jie YANG WeiWei YIN XiaoShu WU PeiLin ZHANG WeiDong 

机构地区：[1]Laboratory of Experimental Animal Science, Hangzhou Normal University, Hangzhou 310036, China [2]Comparative Medicine Center, Yangzhou University, Yangzhou 225002, China [3]The Jackson Laboratory, Bar Harbor, ME 04609, USA

出　　处：《Chinese Science Bulletin》2010年第35期4026-4031,共6页

基　　金：supported by the National Natural Science Foundation of China (30670231 and 30400266);the Scientific Research Foundation for the Returned Overseas Chinese Scholars,Ministry of Education of China

摘　　要：The scant hair mutant mouse(locus symbol:snthr1Bao) is a recessive mutation that originated in an ethylnitrosourea chemical carcinogenesis study using the DBA/2J inbred strain.The gene responsible for the mutation was previously determined to be phospholipase C,delta 1(Plcd1;mutant allele symbol Plcd1snthr1Bao).To map the modifiers of Plcd1,an intercross(DBA/2J-snthr1Bao/snthr1Bao × C57BL/6J+/+) was conducted.The F2 mutant progeny exhibited a variety of alopecia phenotypes;all F2 mutants(n=507) were classified into 3 groups(mild,moderate,and severe alopecia) and genotyped based on 96 microsatellites.A major QTL was identified on mouse chromosome(mChr) 15 at 12 cM with an LOD score greater than 7(P < 0.0001).Three minor QTLs were detected on mChr 2,5,and 7 at 40,84 and 48 cM,respectively.The QTLs on mChr 7 and 15 were associated with minor alopecia while the QTLs on mChr 2 and 5 were associated with moderate to severe alopecia.No antagonistic or synergistic effects among or between the 4 QTLs were found.Integrating the functions of the 4 potential regulatory QTLs and mutant Plcd1snthr1Bao,we found that these QTLs might contribute to variations of scant hair severity by altering the Ca2+ signal pathways in mouse skin.The scant hair mutant mouse （locus symbol： snthrIBao） is a recessive mutation that originated in an ethylnitrosourea chemical car- cinogenesis study using the DBA/2J inbred strain. The gene responsible for the mutation was previously determined to be phos- pholipase C, delta 1 （Plcdl; mutant allele symbol PlcdIsnthrIBao）. TO map the modifiers of Plcdl, an intercross （DBA/2J-snthrIBao/ snthrIBao x C57BL/6J＋/＋） was conducted. The F2 mutant progeny exhibited a variety of alopecia phenotypes; all F2 mutants （n=507） were classified into 3 groups （mild, moderate, and severe alopecia） and genotyped based on 96 microsatellites. A major QTL was identified on mouse chromosome （mChr） 15 at 12 cM with an LOD score greater than 7 （P 〈 0.0001）. Three minor QTLs were detected on mChr 2, 5, and 7 at 40, 84 and 48 cM, respectively. The QTLs on mChr 7 and 15 were associated with minor alopecia while the QTLs on mChr 2 and 5 were associated with moderate to severe alopecia. No antagonistic or synergistic effects among or between the 4 QTLs were found. Integrating the functions of the 4 potential regulatory QTLs and mutant PlcdlsnthrIBao, we found that these QTLs might contribute to variations of scant hair severity by altering the Ca2＋ signal pathways in mouse skin.

关 键 词：突变小鼠 遗传修饰 映射 QTL检测 基因符号 信号转导通路 基因分型 未成年人 

分 类 号：Q954[生物学—动物学] TS252.1[轻工技术与工程—农产品加工及贮藏工程]