Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Editorial
. 2022 Feb 17;139(7):957-959.
doi: 10.1182/blood.2021014533.

Telomere biology disorders gain a family member

Sharon A Savage  1
Affiliations
Editorial

Telomere biology disorders gain a family member

Sharon A Savage. Blood. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

Conflict-of-interest disclosure: S.A.S. declares no competing financial interests.

Figures

None
Schematic of RPA1’s role in telomere biology and relationship to other genes associated with TBD. RPA1, the largest subunit of the RPA heterotrimeric complex, binds single-stranded DNA (ssDNA) at telomeres. TBD-associated variants in RPA1 result in increased ssDNA binding affinity. The components of the telomerase enzyme complex (DKC1, TERC, TERT, NAF1, NOP10, NHP2), telomerase or hTR regulators (TCAB1, PARN, and ZCCHC8), and regulator of telomere elongation helicase 1 (RTEL1), are shown in green. Dark blue indicates the shelterin (TPP1, TIN2, and POT1) and CST (CTC1 and STN1) complexes. Protein names are shown. Gray symbols indicate known key telomere biology proteins not yet attributed to human disease (GAR1 in telomerase complex; TRF1, TRF2, and RAP1 in shelterin; and TEN1 in CST).
See this image and copyright information in PMC

Comment on

  • Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
    Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Künstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Géli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintomé C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW. Sharma R, et al. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980. Blood. 2022. PMID: 34767620 Free PMC article.

References

    1. Sharma R, Sahoo SS, Honda M, et al. . Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood. 2022;139(7):1039-1051. - PMC - PubMed
    1. Niewisch MR, Savage SA. An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2019;12(12):1037-1052. - PMC - PubMed
    1. Bertuch AA. The molecular genetics of the telomere biology disorders. RNA Biol. 2016;13(8):696-706. - PMC - PubMed
    1. Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica. 2012;97(3):353-359. - PMC - PubMed
    1. Gutierrez-Rodrigues F, Santana-Lemos BA, Scheucher PS, Alves-Paiva RM, Calado RT. Direct comparison of flow-FISH and qPCR as diagnostic tests for telomere length measurement in humans. PLoS One. 2014;9(11):e113747. - PMC - PubMed