4.5 Review

Spermatogonial Stem Cells: Implications for Genetic Disorders and Prevention

Journal

STEM CELLS AND DEVELOPMENT
Volume 25, Issue 20, Pages 1483-1494

Publisher

MARY ANN LIEBERT, INC
DOI: 10.1089/scd.2016.0210

Keywords

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Funding

  1. Eunice Kennedy Shriver National Institute Of Child Health & Human Development of National Institutes of Health [1DP 2HD080352-01]
  2. New York State Stem Cell Science Board [C029156]
  3. Tri-Institutional Stem Cell Initiative

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Spermatogonial stem cells (SSCs) propagate mammalian spermatogenesis throughout male reproductive life by continuously self-renewing and differentiating, ultimately, into sperm. SSCs can be cultured for long periods and restore spermatogenesis upon transplantation back into the native microenvironment in vivo. Conventionally, SSC research has been focused mainly on male infertility and, to a lesser extent, on cell reprogramming. With the advent of genome-wide sequencing technology, however, human studies have uncovered a wide range of pathogenic alleles that arise in the male germ line. A subset of de novo point mutations was shown to originate in SSCs and cause congenital disorders in children. This review describes both monogenic diseases (eg, Apert syndrome) and complex disorders that are either known or suspected to be driven by mutations in SSCs. We propose that SSC culture is a suitable model for studying the origin and mechanisms of these diseases. Lastly, we discuss strategies for future clinical implementation of SSC-based technology, from detecting mutation burden by sperm screening to gene correction in vitro.

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