Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population

Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

(2012) V. Pierre et al.   DEVELOPMENT

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

(2012) Elias ElInati et al.   HUMAN MOLECULAR GENETICS

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia

(2012) C. Coutton et al.   HUMAN REPRODUCTION

Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over

(2011) Pengfei Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

(2011) Radu Harbuz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DPY19L2 Deletion as a Major Cause of Globozoospermia

(2011) Isabelle Koscinski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations

(2011) I. L. Berg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mouse PRDM9 DNA-Binding Specificity Determines Sites of Histone H3 Lysine 4 Trimethylation for Initiation of Meiotic Recombination

(2011) Corinne Grey et al.   PLOS BIOLOGY

Biochemical and Genetic Investigation of Round-headed Spermatozoa in Infertile Men including two Brothers and their Father

(2010) S. FLÖRKE-GERLOFF et al.   ANDROLOGIA

Teratozoospermia Absoluta de Presentación Familiar. Espermatozoides Microcéfalos Irregulares sin Acrosoma

(2010) M. NISTAL et al.   ANDROLOGIA

A newly discovered mutation in PICK1 in a human with globozoospermia

(2010) Gang Liu et al.   ASIAN JOURNAL OF ANDROLOGY

Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach

(2010) Oscar Molina et al.   HUMAN GENETICS

Fine-scale recombination rate differences between sexes, populations and individuals

(2010) Augustine Kong et al.   NATURE

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

(2010) Ingrid L Berg et al.   NATURE GENETICS

Mammalian recombination hot spots: properties, control and evolution

(2010) Kenneth Paigen et al.   NATURE REVIEWS GENETICS

Drive Against Hotspot Motifs in Primates Implicates the PRDM9 Gene in Meiotic Recombination

(2010) S. Myers et al.   SCIENCE

PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice

(2010) F. Baudat et al.   SCIENCE

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

A common sequence motif associated with recombination hot spots and genome instability in humans

(2008) Simon Myers et al.   NATURE GENETICS