小鼠Mater基因选择性剪接变异体的鉴定和分析  

Identification and Characterization of Alternativly Splicing Variants for Murine Mater Gene

作　　者：程慧[1] 张晓娟[1] 刘海波[1] 张毅[1] 黄朝峰[1] 马润林[1] 

机构地区：[1]中国科学院遗传与发育生物学研究所,北京100101

出　　处：《Acta Genetica Sinica》2004年第8期795-800,共6页

基　　金：国家杰出青年科学基金项目 (编号 :3 0 12 5 0 2 4)~~

摘　　要：位于小鼠第 7号常染色体的Mater (Maternalantigenthatembryosrequire)编码一个卵母细胞特异的自身抗原 ,与小鼠自免疫性卵巢退化疾病密切相关。在发现Mater基因存在选择性前切现象的基础上 ,通过RT PCR技术 ,在 3个近交品系小鼠 (CBA/J、SWR/J、B6 )中发现并初步验证了Mater基因mRNA的 4种选择性剪接变异体 ,分别命名为B、E、F、G型。其中B型与以前报道的一致 ,具有MatermRNA的全部外显子 ,E、F、G为新发现的剪接变异体 ,其选择性剪接位点都位于阅读框内。E变异体缺失了外显子 6 ,F变异体保留了部分内含子 8并且缺失了外显子 10 ,G变异体缺失了部分外显子 14 ,它们所有的内含子与外显子结合处的DNA序列都遵循“GT AG”剪接规则。B、E、F在B6、CBA/J和SWR/J小鼠品系中均存在 ,G仅存在于SWR/J。根据新发现的 3种剪接变异体的cDNA序列推导出对应的预期蛋白异形体的氨基酸序列 。Mater encoding an oocyte-specific autoantigen,and is associated with premature autoimmune ovarian dysgenesis (AOD) in mouse.Based on RT-PCR,cDNA cloning,screening,sequencing and analysis,we have detected a total of four Mater splice variants,designated as variant B、E、F and G.All these splicing forms are in frame in terms of expected protein products.Among these,B was consistent with the previous report,whereas E、F、G belong to novel splice variants that have not been reported previously.Variant E lacks exon 6,variant F both lacks exon 10 and retains a part of intron 8,variant G lacks part of exon 14,and variant H lacks part of exon 13.The cDNA sequences at all the exon-intron boundaries confirms to the “GT-AG” splicing rule.Variant B、E、F exist in all the four strains.Variant G exists only in SWR/J.According to the cDNA sequences of these four splice variants,amimo acid sequences of the corresponding expected protein isoforms were deduced,and their potential functional effects were predicted in this thesis.Further identification and characterization of these expected protein isoforms would provide valuable information for their functional importance.

关 键 词：自免疫性卵巢退化 Mater RT-PCR 选择性剪接 

分 类 号：Q75[生物学—分子生物学]