核糖体蛋白L5在Diamond-Blackfan贫血伴发唇腭裂中作用机制的研究进展  

Research progress on the mechanism of ribosomal protein L5 in Diamond-Blackfan anemia associated with cleft lip and palate

作　　者：张婉琼 郑谦[1] 贾仲林[1] Zhang Wanqiong;Zheng Qian;Jia Zhonglin(State Key Laboratory of Oral Diseases&National Center for Stomatology&National Clinical Research Center for OralDiseases&Dept.of Cleft Lip and Palate Surgery,West China Hospital of Stomatology,Sichuan University,Chengdu610041,China)

机构地区：[1]口腔疾病防治全国重点实验室、国家口腔医学中心、国家口腔疾病临床医学研究中心、四川大学华西口腔医院唇腭裂外科,成都610041

出　　处：《国际口腔医学杂志》2024年第6期749-755,共7页International Journal of Stomatology

基　　金：四川大学华西口腔医院交叉项目(RD-03-202301)。

摘　　要：核糖体蛋白L5(RPL5)是核糖体大亚基的一部分,携带RPL5基因突变的Diamond-Blackfan贫血患者会伴发多种畸形,包括唇腭裂等颅面畸形以及心脏缺陷等躯体畸形。但是在RPL5突变导致核糖体生物发生缺陷的情况下,唇腭裂发生的机制仍然知之甚少。本文综述了近年对于RPL5的研究,并讨论了突变的RPL5核糖体蛋白与唇腭裂发生的可能机制。Ribosomal protein L5(RPL5)is a part of the large subunit of the ribosome.Diamond-Blackfan anemia in pa-tients who carry mutations in the RPL5 gene is associated with various malformations,including craniofacial malforma-tions such as cleft lip and palate and somatic malformations such as heart defects.In the case of RPL5 mutation leading to defects in ribosome organisms,the mechanism by which cleft lip and palate occurs is still poorly understood.This study reviews recent research on RPL5 and discusses the possible mechanisms by which mutated RPL5 occurs in cleft lip and palate.

关 键 词：核糖体蛋白L5 Diamond-Blackfan贫血 唇腭裂 P53 核糖体蛋白 

分 类 号：Q75[生物学—分子生物学]