Medical genetics and epigenetics of telomerase

Jillian E. Koziel, Melanie J. Fox, Catherine E. Steding, Alyssa A. Sprouse, Brittney-Shea Herbert

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Telomerase is a specialized reverse transcriptase that extends and maintains the terminal ends of chromosomes, or telomeres. Since its discovery in 1985 by Nobel Laureates Elizabeth Blackburn and Carol Greider, thousands of articles have emerged detailing its significance in telomere function and cell survival. This review provides a current assessment on the importance of telomerase regulation and relates it in terms of medical genetics. In this review, we discuss the recent findings on telomerase regulation, focusing on epigenetics and non-coding RNAs regulation of telomerase, such as microRNAs and the recently discovered telomeric-repeat containing RNA transcripts. Human genetic disorders that develop due to mutations in telomerase subunits, the role of single nucleotide polymorphisms in genes encoding telomerase components and diseases as a result of telomerase regulation going awry are also discussed. Continual investigation of the complex regulation of telomerase will further our insight into the use of controlling telomerase activity in medicine.

Original languageEnglish
Pages (from-to)457-467
Number of pages11
JournalJournal of Cellular and Molecular Medicine
Volume15
Issue number3
DOIs
StatePublished - Mar 2011

Fingerprint

Telomerase
Medical Genetics
Epigenomics
Telomere
Untranslated RNA
Inborn Genetic Diseases
RNA-Directed DNA Polymerase
MicroRNAs
Single Nucleotide Polymorphism
Cell Survival
Chromosomes
Medicine
RNA
Mutation

Keywords

  • Epigenetics
  • Gene variation
  • Medical genetics
  • MiRNAs
  • SNPs
  • Telomerase
  • TERRA

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Medicine

Cite this

Medical genetics and epigenetics of telomerase. / Koziel, Jillian E.; Fox, Melanie J.; Steding, Catherine E.; Sprouse, Alyssa A.; Herbert, Brittney-Shea.

In: Journal of Cellular and Molecular Medicine, Vol. 15, No. 3, 03.2011, p. 457-467.

Research output: Contribution to journalArticle

Koziel, Jillian E. ; Fox, Melanie J. ; Steding, Catherine E. ; Sprouse, Alyssa A. ; Herbert, Brittney-Shea. / Medical genetics and epigenetics of telomerase. In: Journal of Cellular and Molecular Medicine. 2011 ; Vol. 15, No. 3. pp. 457-467.
@article{49c81beb2e75493b80fbdaa874abf07d,
title = "Medical genetics and epigenetics of telomerase",
abstract = "Telomerase is a specialized reverse transcriptase that extends and maintains the terminal ends of chromosomes, or telomeres. Since its discovery in 1985 by Nobel Laureates Elizabeth Blackburn and Carol Greider, thousands of articles have emerged detailing its significance in telomere function and cell survival. This review provides a current assessment on the importance of telomerase regulation and relates it in terms of medical genetics. In this review, we discuss the recent findings on telomerase regulation, focusing on epigenetics and non-coding RNAs regulation of telomerase, such as microRNAs and the recently discovered telomeric-repeat containing RNA transcripts. Human genetic disorders that develop due to mutations in telomerase subunits, the role of single nucleotide polymorphisms in genes encoding telomerase components and diseases as a result of telomerase regulation going awry are also discussed. Continual investigation of the complex regulation of telomerase will further our insight into the use of controlling telomerase activity in medicine.",
keywords = "Epigenetics, Gene variation, Medical genetics, MiRNAs, SNPs, Telomerase, TERRA",
author = "Koziel, {Jillian E.} and Fox, {Melanie J.} and Steding, {Catherine E.} and Sprouse, {Alyssa A.} and Brittney-Shea Herbert",
year = "2011",
month = "3",
doi = "10.1111/j.1582-4934.2011.01276.x",
language = "English",
volume = "15",
pages = "457--467",
journal = "Journal of Cellular and Molecular Medicine",
issn = "1582-1838",
publisher = "Wiley-Blackwell",
number = "3",

}

TY - JOUR

T1 - Medical genetics and epigenetics of telomerase

AU - Koziel, Jillian E.

AU - Fox, Melanie J.

AU - Steding, Catherine E.

AU - Sprouse, Alyssa A.

AU - Herbert, Brittney-Shea

PY - 2011/3

Y1 - 2011/3

N2 - Telomerase is a specialized reverse transcriptase that extends and maintains the terminal ends of chromosomes, or telomeres. Since its discovery in 1985 by Nobel Laureates Elizabeth Blackburn and Carol Greider, thousands of articles have emerged detailing its significance in telomere function and cell survival. This review provides a current assessment on the importance of telomerase regulation and relates it in terms of medical genetics. In this review, we discuss the recent findings on telomerase regulation, focusing on epigenetics and non-coding RNAs regulation of telomerase, such as microRNAs and the recently discovered telomeric-repeat containing RNA transcripts. Human genetic disorders that develop due to mutations in telomerase subunits, the role of single nucleotide polymorphisms in genes encoding telomerase components and diseases as a result of telomerase regulation going awry are also discussed. Continual investigation of the complex regulation of telomerase will further our insight into the use of controlling telomerase activity in medicine.

AB - Telomerase is a specialized reverse transcriptase that extends and maintains the terminal ends of chromosomes, or telomeres. Since its discovery in 1985 by Nobel Laureates Elizabeth Blackburn and Carol Greider, thousands of articles have emerged detailing its significance in telomere function and cell survival. This review provides a current assessment on the importance of telomerase regulation and relates it in terms of medical genetics. In this review, we discuss the recent findings on telomerase regulation, focusing on epigenetics and non-coding RNAs regulation of telomerase, such as microRNAs and the recently discovered telomeric-repeat containing RNA transcripts. Human genetic disorders that develop due to mutations in telomerase subunits, the role of single nucleotide polymorphisms in genes encoding telomerase components and diseases as a result of telomerase regulation going awry are also discussed. Continual investigation of the complex regulation of telomerase will further our insight into the use of controlling telomerase activity in medicine.

KW - Epigenetics

KW - Gene variation

KW - Medical genetics

KW - MiRNAs

KW - SNPs

KW - Telomerase

KW - TERRA

UR - http://www.scopus.com/inward/record.url?scp=79953311697&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79953311697&partnerID=8YFLogxK

U2 - 10.1111/j.1582-4934.2011.01276.x

DO - 10.1111/j.1582-4934.2011.01276.x

M3 - Article

C2 - 21323862

AN - SCOPUS:79953311697

VL - 15

SP - 457

EP - 467

JO - Journal of Cellular and Molecular Medicine

JF - Journal of Cellular and Molecular Medicine

SN - 1582-1838

IS - 3

ER -