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基因组内三个信息层相互作用决定美臀表型产生
引用本文:刘长征,杨克恭,陈松森.基因组内三个信息层相互作用决定美臀表型产生[J].中国生物化学与分子生物学报,2006,22(3):177-183.
作者姓名:刘长征  杨克恭  陈松森
作者单位: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,医学分子生物学国家重点实验室,北京,100005
基金项目:国家高技术研究发展计划(863计划)
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-range control 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.

关 键 词:美臀  极化超显性  RNA干扰  基因表达调控  
收稿时间:2005-6-17
修稿时间:2005年6月17日

Interaction of Three Information Layers in the Genome Results in the Callipyge Phenotype
LIU Chang-Zheng,YANG Ke-Gong,CHEN Song-Sen.Interaction of Three Information Layers in the Genome Results in the Callipyge Phenotype[J].Chinese Journal of Biochemistry and Molecular Biology,2006,22(3):177-183.
Authors:LIU Chang-Zheng  YANG Ke-Gong  CHEN Song-Sen
Institution:NationalLaboratoryofMolecularBiology,InstituteofBasicMedicalSciences,ChineseAcademyofMedicalSciences,SchoolofBasicMedicine,PekingUnionMedicalCollege,Beijing100005,China
Abstract:The callipyge phenotype in sheep is an inherited muscular hypertrophy,which is transmitted to its offspring through a unique mode referred to as polar overdominance.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,non-recoding 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.
Keywords:callipyge  polar overdominance  RNAi  gene expression regulation
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