Guillaume Martinez

TL;DR: Molecular studies of numerous unrelated patients with globozoospermia and large-headed spermatozoa confirmed that mutations in DPY19L2 and AURKC are mainly responsible for their respective pathological phenotype, strengthening the emerging point of view that MMAF may be a phenotypic variation of the classical forms of primary ciliary dyskinesia.

TL;DR: It is demonstrated that CFAP43 and CFAP44 have a similar structure with a unique axonemal localization and are necessary to produce functional flagella in species ranging from Trypanosoma to human.

TL;DR: The absence of Dpy19l2 leads to the destabilization of both the nuclear dense lamina (NDL) and the junction between the acroplaxome and the nuclear envelope leading to the disruption of vesicular trafficking, failure of sperm nuclear shaping and eventually to the elimination of the unbound acrosomal vesicle.

TL;DR: The identification of homozygous truncating mutations (one stop-gain and one splicing variant) in CFAP69 of two unrelated individuals by whole-exome sequencing of a cohort of 78 infertile men with MMAF indicates that CFAP 69 is necessary for flagellum assembly/stability and that in both humans and mice, biallelic truncating mutation in CF AP69 cause autosomal-recessive MMAF and primary male infertility.

TL;DR: It is demonstrated in humans, the absence of PLCZ1 alone is sufficient to prevent oocyte activation irrespective of the presence of PAWP, and the first mutation located in the C2 domain of P LCZ1, a domain involved in targeting proteins to cell membranes is shown, opening the door to structure-function studies.