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Fast forward to new genes in mammalian reproduction
Author(s) -
Furnes Bjarte,
Schimenti John
Publication year - 2007
Publication title -
the journal of physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.802
H-Index - 240
eISSN - 1469-7793
pISSN - 0022-3751
DOI - 10.1113/jphysiol.2006.119164
Subject(s) - biology , germline , genetics , forward genetics , gene , model organism , mutagenesis , genetic screen , drosophila melanogaster , genome , reverse genetics , germ cell , mutant , phenotype , computational biology
The study of reproductive genetics in mammals has lagged behind that of simpler and more tractable model organisms, such as D. melanogaster , C. elegans and various yeast models. Although much valuable information has been generated using these organisms, they do not model the genetic and biological complexity of mammalian reproduction. Thus, the majority of genes required for gametogenesis in mammals remain unidentified. To expand on the existing knowledge of mammalian reproductive genetics, we have carried out forward genetic screens in mice to identify infertility mutants and the underlying mutant genes. Two different approaches were used: mutagenesis of the germline in whole mice, and mutagenesis of embryonic stem cells. This was followed by two‐ or three‐generation breeding schemes to identify pedigrees segregating infertility mutations, which were then phenotypically characterized, genetically mapped, and in some cases, positionally cloned. This whole‐genome approach has generated a wide collection of mutants with defects ranging from problems with germ cell development to abnormal sperm morphology. These models have allowed us to study the genetics, as well as the physiology, of reproduction in mammals. This review focuses on describing some of the genes identified in these screens and the ongoing effort to characterize additional mutants.