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Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.
J Clin Invest
November 2024
Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada.
To identify novel genes responsible for recurrent hydatidiform moles (HMs), we performed exome sequencing on 75 unrelated patients who were negative for mutations in the known genes. We identified biallelic deleterious variants in 6 genes, FOXL2, MAJIN, KASH5, SYCP2, MEIOB, and HFM1, in patients with androgenetic HMs, including a familial case of 3 affected members. Five of these genes are essential for meiosis I, and their deficiencies lead to premature ovarian insufficiency.
View Article and Find Full Text PDFExtracellular vesicles secreted by cumulus cells contain microRNAs that are potential regulatory factors of mouse oocyte developmental competence.
Mol Hum Reprod
May 2024
Laboratory of Biology and Biotechnology of Reproduction, Department of Biology and Biotechnology 'Lazzaro Spallanzani', University of Pavia, Pavia, Italy.
The role of cumulus cells (CCs) in the acquisition of oocyte developmental competence is not yet fully understood. In a previous study, we matured cumulus-denuded fully-grown mouse oocytes to metaphase II (MII) on a feeder layer of CCs (FL-CCs) isolated from developmentally competent (FL-SN-CCs) or incompetent (FL-NSN-CCs) SN (surrounded nucleolus) or NSN (not surrounding nucleolus) oocytes, respectively. We observed that oocytes cultured on the former could develop into blastocysts, while those matured on the latter arrested at the 2-cell stage.
View Article and Find Full Text PDFLrp13a and Lrp13b serve as vitellogenin receptors in the ovary of zebrafish†.
Biol Reprod
July 2024
College of Life Sciences, Northwest Normal University, Lanzhou, China.
In oviparous animals, egg yolk is largely derived from vitellogenin, which is taken up from the maternal circulation by the growing oocytes via the vitellogenin receptor. Recently, a novel member of the lipoprotein receptor superfamily termed low-density lipoprotein receptor-related protein 13 was identified and proposed as a candidate of vitellogenin receptor in oviparous animals. However, the roles of low-density lipoprotein receptor-related protein 13 in vitellogenesis are still poorly defined.
View Article and Find Full Text PDFBalbiani body of basal insects is potentially involved in multiplication and selective elimination of mitochondria.
Sci Rep
April 2024
Department of Developmental Biology and Invertebrate Morphology, Institute of Zoology and Biomedical Research, Faculty of Biology, Jagiellonian University in Krakow, Gronostajowa 9, 30-387, Kraków, Poland.
Oocytes of both vertebrates and invertebrates often contain an intricate organelle assemblage, termed the Balbiani body (Bb). It has previously been suggested that this assemblage is involved in the delivery of organelles and macromolecules to the germ plasm, formation of oocyte reserve materials, and transfer of mitochondria to the next generation. To gain further insight into the function of the Bb, we performed a series of analyses and experiments, including computer-aided 3-dimensional reconstructions, detection of DNA (mtDNA) synthesis as well as immunolocalization studies.
View Article and Find Full Text PDFA cytological F1 RNAi screen for defects in Drosophila melanogaster female meiosis.
Genetics
May 2024
Department of Biological Sciences, DePaul University, Chicago, IL 60614, USA.
Genetic screens for recessive alleles induce mutations, make the mutated chromosomes homozygous, and then assay those homozygotes for the phenotype of interest. When screening for genes required for female meiosis, the phenotype of interest has typically been nondisjunction from chromosome segregation errors. As this requires that mutant females be viable and fertile, any mutants that are lethal or sterile when homozygous cannot be recovered by this approach.
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