Molecular basis of telomere dysfunction in human genetic diseases

被引：64

作者：

Sarek, Grzegorz ^{[1
]}

Marzec, Paulina ^{[1
]}

Margalef, Pol ^{[1
]}

Boulton, Simon J. ^{[1
]}

机构：

[1] Francis Crick Inst, DNA Damage Response Lab, S Mimms, Herts, England

来源：

NATURE STRUCTURAL & MOLECULAR BIOLOGY | 2015年 / 22卷 / 11期

基金：

英国惠康基金; 欧洲研究理事会;

关键词：

BONE-MARROW FAILURE; HOYERAAL-HREIDARSSON-SYNDROME; X-LINKED DYSKERATOSIS; END-PROTECTION PROBLEM; SMALL NUCLEOLAR RNA; REVERSE-TRANSCRIPTASE; CAJAL BODIES; STEM-CELLS; MAMMALIAN TELOMERES; TINF2; MUTATIONS;

D O I：

10.1038/nsmb.3093

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Mutations in genes encoding proteins required for telomere structure, replication, repair and length maintenance are associated with several debilitating human genetic disorders. These complex telomere biology disorders (TBDs) give rise to critically short telomeres that affect the homeostasis of multiple organs. Furthermore, genome instability is often a hallmark of telomere syndromes, which are associated with increased cancer risk. Here, we summarize the molecular causes and cellular consequences of disease-causing mutations associated with telomere dysfunction.

引用

页码：867 / 874

页数：8

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