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Article

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots

31 May 2012

Abstract excerpt

To date, mutations in two genes, SPATA16 and DPY19L2, have been identified as responsible for a severe teratozoospermia, namely globozoospermia. The two initial descriptions of the DPY19L2 deletion lead to a very different rate of occurrence of this mutation among globospermic patients. In order to better estimate the contribution of DPY19L2 in globozoospermia, we screened a larger cohort including 64...

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PMID: 22653751
DOI: 10.1093/hmg/dds200

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Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspotsPMID 22653751Read ↗

DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations.Semantic proximity Read ↗

Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.Semantic proximity Read ↗

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Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia.Semantic proximity Read ↗

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.Semantic proximity Read ↗

Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia.Semantic proximity Read ↗

Proteomic Analysis of Dpy19l2‐Deficient Human Globozoospermia Reveals Multiple Molecular DefectsSemantic proximity Read ↗

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.Semantic proximity Read ↗

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermiaSemantic proximity Read ↗

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Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population.Semantic proximity Read ↗

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