Human Gene Set: MATZUK_MEIOTIC_AND_DNA_REPAIR


Standard name MATZUK_MEIOTIC_AND_DNA_REPAIR
Systematic name M1819
Brief description Meitic and DNA repair genes important for female fertility, based on mouse models with female fertility defects.
Full description or abstract Reproduction is required for the survival of all mammalian species, and thousands of essential 'sex' genes are conserved through evolution. Basic research helps to define these genes and the mechanisms responsible for the development, function and regulation of the male and female reproductive systems. However, many infertile couples continue to be labeled with the diagnosis of idiopathic infertility or given descriptive diagnoses that do not provide a cause for their defect. For other individuals with a known etiology, effective cures are lacking, although their infertility is often bypassed with assisted reproductive technologies (ART), some accompanied by safety or ethical concerns. Certainly, progress in the field of reproduction has been realized in the twenty-first century with advances in the understanding of the regulation of fertility, with the production of over 400 mutant mouse models with a reproductive phenotype and with the promise of regenerative gonadal stem cells. Indeed, the past six years have witnessed a virtual explosion in the identification of gene mutations or polymorphisms that cause or are linked to human infertility. Translation of these findings to the clinic remains slow, however, as do new methods to diagnose and treat infertile couples. Additionally, new approaches to contraception remain elusive. Nevertheless, the basic and clinical advances in the understanding of the molecular controls of reproduction are impressive and will ultimately improve patient care.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 18989307   Authors: Matzuk MM,Lamb DJ
Exact source Fig. 4: Meiotic and DNA repair
Related gene sets (show 17 additional gene sets from the source publication)

(show 2 gene sets from the same authors)
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Source species Mus musculus
Contributed by Jessica Robertson (MSigDB Team)
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identifier namespace		 HUMAN_GENE_SYMBOL
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Version history 3.1: First introduced

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