基因组内三个信息层相互作用决定美臀表型产生  

Interaction of Three Information Layers in the Genome Results in the Callipyge Phenotype

作　　者：刘长征[1] 杨克恭[1] 陈松森[1] 

机构地区：[1]中国医学科学院基础医学研究所中国协和医科大学基础医学院

出　　处：《中国生物化学与分子生物学报》2006年第3期177-183,共7页Chinese Journal of Biochemistry and Molecular Biology

基　　金：国家高技术发展计划(863计划)重大专项基金资助(No.2003AAZ3360)~~

摘　　要：绵羊callipyge(美臀)是一种可遗传的肌肉肥厚体征,该表型以独特的方式“极化超显性”遗传给子代.绵羊18号染色体的DLK1-GTL2印记化结构域内存在1个远距离调控元件(long-rangecontrol element,LRCE),该元件发生单个碱基突变(A→G).A→G突变顺式作用于印记化结构域内的相关基因,印记化基因的产物包括蛋白质及非编码RNA分子,它们相互作用导致美臀表型产生.美臀表型产生及其独特的遗传方式是绵羊基因组内的蛋白质编码基因、非编码RNA基因以及表观遗传效应等3个信息层相互作用的结果,说明以前被忽略的隐藏信息发挥了极其重要的调控功能.这些现象对经典的中心法则形成了挑战,但是为基因组研究拓展了新的领域.The callipyge phenotype in sheep is an inherited muscular hypertrophy, which is transmitted to its offspring through a unique mode referred to as polar overdominanee. There is a single nucleotide substitution （A to G） in a long-range control element（LRCE） within the DLK1-GTL2 imprinted domain at the telomeric end of chromosome 18 of the sheep with callipyge phenotype. The callipyge phenotype results from the combination of the cis-action of the A to G mutation on the expression levels of genes in the DLK1-GTL2 imprinted domain and the trans-interaction between the products of reciprocally imprinted genes, in another word, the complexity of callipyge inheritance may be involved in interaction of three information layers： protein-encoding genes, nonrecoding RNA genes and two epigenetic effects. The hidden parts of the genome ignored before play an important regular role, which raises the challenge to traditional central dogma. However, it broadens new fields of genome research simultaneously.

关 键 词：美臀 极化超显性 RNA干扰 基因表达调控 

分 类 号：Q74[生物学—分子生物学] Q78