Connecting Complex Disorders Through Biology

Overview

Journal Nat Genet

Specialty Genetics

Date 2012 Feb 28

PMID 22366859

Citations 12

Authors

Sharon A Savage

Affiliations

Soon will be listed here.

Abstract

Mutations in CTC1, which encodes a key telomere component, have been identified as the cause of Coats plus syndrome. This discovery provides an important pathophysiological link between Coats plus and the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson syndrome.

Citing Articles

An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Niewisch M, Savage S Expert Rev Hematol. 2019; 12(12):1037-1052.

PMID: 31478401 PMC: 9400112. DOI: 10.1080/17474086.2019.1662720.

Beginning at the ends: telomeres and human disease.

Savage S F1000Res. 2018; 7.

PMID: 29770205 PMC: 5931273. DOI: 10.12688/f1000research.14068.1.

Telomere heterogeneity linked to metabolism and pluripotency state revealed by simultaneous analysis of telomere length and RNA-seq in the same human embryonic stem cell.

Wang H, Zhang K, Liu Y, Fu Y, Gao S, Gong P BMC Biol. 2017; 15(1):114.

PMID: 29216888 PMC: 5721592. DOI: 10.1186/s12915-017-0453-8.

[The progress of molecular genetics in bone marrow failure].

Liu C, Zhang F Zhonghua Xue Ye Xue Za Zhi. 2017; 38(1):79-82.

PMID: 28219235 PMC: 7348408. DOI: 10.3760/cma.j.issn.0253-2727.2017.01.020.

Human CST Facilitates Genome-wide RAD51 Recruitment to GC-Rich Repetitive Sequences in Response to Replication Stress.

Chastain M, Zhou Q, Shiva O, Fadri-Moskwik M, Whitmore L, Jia P Cell Rep. 2016; 16(5):1300-1314.

PMID: 27487043 PMC: 4976776. DOI: 10.1016/j.celrep.2016.06.077.

References

Briggs T, Abdel-Salam G, Balicki M, Baxter P, Bertini E, Bishop N . Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A. 2007; 146A(2):182-90. DOI: 10.1002/ajmg.a.32080. View

Levy D, Neuhausen S, Hunt S, Kimura M, Hwang S, Chen W . Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology. Proc Natl Acad Sci U S A. 2010; 107(20):9293-8. PMC: 2889047. DOI: 10.1073/pnas.0911494107. View

de Lange T . How shelterin solves the telomere end-protection problem. Cold Spring Harb Symp Quant Biol. 2011; 75:167-77. DOI: 10.1101/sqb.2010.75.017. View

Walne A, Vulliamy T, Beswick R, Kirwan M, Dokal I . Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010; 19(22):4453-61. PMC: 2957322. DOI: 10.1093/hmg/ddq371. View

Dokal I . Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program. 2011; 2011:480-6. DOI: 10.1182/asheducation-2011.1.480. View

Surovtseva Y, Churikov D, Boltz K, Song X, Lamb J, Warrington R . Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes. Mol Cell. 2009; 36(2):207-18. PMC: 2768651. DOI: 10.1016/j.molcel.2009.09.017. View

Anderson B, Kasher P, Mayer J, Szynkiewicz M, Jenkinson E, Bhaskar S . Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet. 2012; 44(3):338-42. DOI: 10.1038/ng.1084. View

Mitchell J, Wood E, Collins K . A telomerase component is defective in the human disease dyskeratosis congenita. Nature. 1999; 402(6761):551-5. DOI: 10.1038/990141. View

Savage S, Giri N, Baerlocher G, Orr N, Lansdorp P, Alter B . TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008; 82(2):501-9. PMC: 2427222. DOI: 10.1016/j.ajhg.2007.10.004. View

10.

Savage S, Bertuch A . The genetics and clinical manifestations of telomere biology disorders. Genet Med. 2010; 12(12):753-64. PMC: 3825100. DOI: 10.1097/GIM.0b013e3181f415b5. View

11.

Labrune P, Lacroix C, Goutieres F, de Laveaucoupet J, Chevalier P, Zerah M . Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. Neurology. 1996; 46(5):1297-301. DOI: 10.1212/wnl.46.5.1297. View

12.

Crow Y, McMenamin J, Haenggeli C, Hadley D, Tirupathi S, Treacy E . Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Neuropediatrics. 2004; 35(1):10-9. DOI: 10.1055/s-2003-43552. View

13.

Knight S, Heiss N, Vulliamy T, Greschner S, Stavrides G, Pai G . X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet. 1999; 65(1):50-8. PMC: 1378074. DOI: 10.1086/302446. View

14.

Giraud-Panis M, Teixeira M, Geli V, Gilson E . CST meets shelterin to keep telomeres in check. Mol Cell. 2010; 39(5):665-76. DOI: 10.1016/j.molcel.2010.08.024. View

15.

Alter B, Baerlocher G, Savage S, Chanock S, Weksler B, Willner J . Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood. 2007; 110(5):1439-47. PMC: 1975834. DOI: 10.1182/blood-2007-02-075598. View