Genetics of azoospermia

F Cioppi, V Rosta, C Krausz - International journal of molecular sciences, 2021 - mdpi.com
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

Human aneuploidy: mechanisms and new insights into an age-old problem

SI Nagaoka, TJ Hassold, PA Hunt - Nature Reviews Genetics, 2012 - nature.com
Trisomic and monosomic (aneuploid) embryos account for at least 10% of human
pregnancies and, for women nearing the end of their reproductive lifespan, the incidence …

Single-cell RNA sequencing of human, macaque, and mouse testes uncovers conserved and divergent features of mammalian spermatogenesis

AN Shami, X Zheng, SK Munyoki, Q Ma, GL Manske… - Developmental cell, 2020 - cell.com
Spermatogenesis is a highly regulated process that produces sperm to transmit genetic
information to the next generation. Although extensively studied in mice, our current …
C Ernst, N Eling, CP Martinez-Jimenez… - Nature …, 2019 - nature.com
Male gametes are generated through a specialised differentiation pathway involving a
series of developmental transitions that are poorly characterised at the molecular level …

Transgenerational epigenetic inheritance: prevalence, mechanisms, and implications for the study of heredity and evolution

E Jablonka, G Raz - The Quarterly review of biology, 2009 - journals.uchicago.edu
This review describes new developments in the study of transgenerational epigenetic
inheritance, a component of epigenetics. We start by examining the basic concepts of the …

The advantages and disadvantages of being polyploid

L Comai - Nature reviews genetics, 2005 - nature.com
Polyploids—organisms that have multiple sets of chromosomes—are common in certain
plant and animal taxa, and can be surprisingly stable. The evidence that has emerged from …

The TopoVIB-Like protein family is required for meiotic DNA double-strand break formation

T Robert, A Nore, C Brun, C Maffre, B Crimi, V Guichard… - Science, 2016 - science.org
Meiotic recombination is induced by the formation of DNA double-strand breaks (DSBs)
catalyzed by SPO11, the ortholog of subunit A of TopoVI DNA topoisomerase (TopoVIA) …

Histone variants—ancient wrap artists of the epigenome

PB Talbert, S Henikoff - Nature reviews Molecular cell biology, 2010 - nature.com
Histones wrap DNA to form nucleosome particles that compact eukaryotic genomes. Variant
histones have evolved crucial roles in chromosome segregation, transcriptional regulation …

MIWI2 is essential for spermatogenesis and repression of transposons in the mouse male germline

MA Carmell, A Girard, HJG Van De Kant, D Bourc'his… - Developmental cell, 2007 - cell.com
Summary Small RNAs associate with Argonaute proteins and serve as sequence-specific
guides for regulation of mRNA stability, productive translation, chromatin organization, and …

Genetics of mammalian meiosis: regulation, dynamics and impact on fertility

MA Handel, JC Schimenti - Nature Reviews Genetics, 2010 - nature.com
Meiosis is an essential stage in gamete formation in all sexually reproducing organisms.
Studies of mutations in model organisms and of human haplotype patterns are leading to a …