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Review
. 2016 Aug 2;13(8):696-706.
doi: 10.1080/15476286.2015.1094596. Epub 2015 Sep 23.

The molecular genetics of the telomere biology disorders

Alison A Bertuch  1
Affiliations
Review

The molecular genetics of the telomere biology disorders

Alison A Bertuch. RNA Biol. .

Abstract

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.

Keywords: PARN; RTEL1; TERC; TERT; dyskeratosis congenita; hTR; idiopathic pulmonary fibrosis; telomerase; telomere; telomeropathy.

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References

    1. Aubert G, Baerlocher GM, Vulto I, Poon SS, Lansdorp PM. Collapse of telomere homeostasis in hematopoietic cells caused by heterozygous mutations in telomerase genes. PLoS Genet 2012; 8:e1002696; PMID:22661914; http://dx.doi.org/10.1371/journal.pgen.1002696 - DOI - PMC - PubMed
    1. Makarov VL, Hirose Y, Langmore JP. Long G tails at both ends of human chromosomes suggest a C strand degradation mechanism for telomere shortening. Cell 1997; 88:657-66; PMID:9054505; http://dx.doi.org/10.1016/S0092-8674(00)81908-X - DOI - PubMed
    1. McElligott R, Wellinger RJ. The terminal DNA structure of mammalian chromosomes. EMBO J 1997; 16:3705-14; PMID:9218811; http://dx.doi.org/10.1093/emboj/16.12.3705 - DOI - PMC - PubMed
    1. Wright WE, Tesmer VM, Liao ML, Shay JW. Normal human telomeres are not late replicating. Exp Cell Res 1999; 251:492-9; PMID:10471333; http://dx.doi.org/10.1006/excr.1999.4602 - DOI - PubMed
    1. Armanios M. Syndromes of telomere shortening. Annu Rev Genomics Hum Genet 2009; 10:45-61; PMID:19405848; http://dx.doi.org/10.1146/annurev-genom-082908-150046 - DOI - PMC - PubMed

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