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Chromosoma

, Volume 125, Issue 2, pp 337–351 | Cite as

Telomere homeostasis in mammalian germ cells: a review

  • Rita Reig-Viader
  • Montserrat Garcia-CaldésEmail author
  • Aurora Ruiz-HerreraEmail author
Review

Abstract

Telomeres protect against genome instability and participate in chromosomal movements during gametogenesis, especially in meiosis. Thus, maintaining telomere structure and telomeric length is essential to both cell integrity and the production of germ cells. As a result, alteration of telomere homeostasis in the germ line may result in the generation of aneuploid gametes or gametogenesis disruption, triggering fertility problems. In this work, we provide an overview on fundamental aspects of the literature regarding the organization of telomeres in mammalian germ cells, paying special attention to telomere structure and function, as well as the maintenance of telomeric length during gametogenesis. Moreover, we discuss the different roles recently described for telomerase and TERRA in maintaining telomere functionality. Finally, we review how new findings in the field of reproductive biology underscore the role of telomere homeostasis as a potential biomarker for infertility. Overall, we anticipate that the study of telomere stability and equilibrium will contribute to improve diagnoses of patients; assess the risk of infertility in the offspring; and in turn, find new treatments.

Keywords

Telomeres TERRA Telomerase Meiosis Spermatocytes Oocytes Infertility 

Abbreviations

ALT

Alternative lengthening of telomere

COs

Crossovers

DSBs

Double-strand breaks

IVF

In vitro fertilization

KASH

Klarsicht/ANC-1/syne/homology

KASH5

KASH domain-containing protein 5

LINC

Linker of nucleoskeleton and cytoskeleton

NE

Nuclear envelope

POT1

Protection of telomeres 1

RAP1

Repressor and activator protein 1

SMC1β

Structural maintenance of chromosomes 1β

STAG3

Stroma antigen 3

SUN

Sad-1/UNC-84

SUN1

SUN domain-containing protein 1

SUN2

SUN domain-containing protein 2

TERB1

Telomere repeat-binding bouquet formation protein 1

TERRA

Telomeric repeat-containing RNA

TERT

Telomerase reverse transcriptase

TIN2

TRF1-interacting nuclear factor 2

TPP1

TIN2- and POT1-interacting nuclear protein 1

TR

Telomerase RNA component

TRAP

Telomeric repeat amplification protocol

TRF1

Telomeric repeat-binding factor 1

TRF2

Telomeric repeat-binding factor 2

Notes

Acknowledgments

R.R.-V. was the recipient of a PIF fellowship from the Universitat Autònoma de Barcelona. This work was partially funded by the Generalitat de Catalunya (2009SGR1107).

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

Conflict of interest

R.R.-V. declares that she has no conflict of interest. M.G.-C. declares that she has no conflict of interest. A.R.-H. declares that she has no conflict of interest.

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© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Departament de Biologia Cel.lular, Fisiologia i ImmunologiaUniversitat Autònoma de BarcelonaCerdanyola del VallèsSpain
  2. 2.Genome Integrity and Instability Group, Institut de Biotecnologia i BiomedicinaUniversitat Autònoma de BarcelonaCerdanyola del VallèsSpain
  3. 3.Grup de Fisiologia Molecular de la SinapsBarcelonaSpain

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