The molecular genetics of the telomere biology disorders

被引：127

作者：

Bertuch, Alison A. ^{[1
,2
]}

机构：

[1] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

RNA BIOLOGY | 2016年 / 13卷 / 08期

关键词：

dyskeratosis congenita; hTR; idiopathic pulmonary fibrosis; PARN; RTEL1; telomerase; telomere; telomeropathy; TERC; TERT; BONE-MARROW FAILURE; HOYERAAL-HREIDARSSON SYNDROME; DYSKERATOSIS-CONGENITA MUTATIONS; FAMILIAL INTERSTITIAL PNEUMONIA; IDIOPATHIC PULMONARY-FIBROSIS; GENOME-WIDE REPLICATION; MAINTENANCE COMPONENT 1; NORMAL HUMAN-CELLS; APLASTIC-ANEMIA; REVERSE-TRANSCRIPTASE;

D O I：

10.1080/15476286.2015.1094596

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：

The importance of telomere function for human health is exemplified by a collection of Mendelian disorders referred to as the telomere biology disorders (TBDs), telomeropathies, or syndromes of telomere shortening. Collectively, the TBDs cover a spectrum of conditions from multisystem disease presenting in infancy to isolated disease presentations in adulthood, most notably idiopathic pulmonary fibrosis. Eleven genes have been found mutated in the TBDs to date, each of which is linked to some aspect of telomere maintenance. This review summarizes the molecular defects that result from mutations in these genes, highlighting recent advances, including the addition of PARN to the TBD gene family and the discovery of heterozygous mutations in RTEL1 as a cause of familial pulmonary fibrosis.

引用

页码：696 / 706

页数：11

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