Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia

C Xie, W Wang, C Tu, L Meng, G Lu… - Human reproduction …, 2022 - academic.oup.com
BACKGROUND Meiosis is an essential stage in the life cycle of sexually reproducing
species, underlying formation of haploid gametes and serving as the basis of genetic …

Single-cell multi-omics sequencing of human spermatogenesis reveals a DNA demethylation event associated with male meiotic recombination

Y Huang, L Li, G An, X Yang, M Cui, X Song, J Lin… - Nature Cell …, 2023 - nature.com
Human spermatogenesis is a highly ordered process; however, the roles of DNA
methylation and chromatin accessibility in this process remain largely unknown. Here by …

Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus

R Slim, R Fisher, F Milhavet, R Hemida… - Human …, 2022 - Wiley Online Library
Hydatidiform mole (HM) is an abnormal human pregnancy characterized by excessive
growth of placental trophoblasts and abnormal early embryonic development. Following a …

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans

S Fan, Y Jiao, R Khan, X Jiang, AR Javed, A Ali… - The American Journal of …, 2021 - cell.com
Human infertility is a multifactorial disease that affects 8%–12% of reproductive-aged
couples worldwide. However, the genetic causes of human infertility are still poorly …

RAD51AP2 is required for efficient meiotic recombination between X and Y chromosomes

H Ma, T Li, X Xie, L Jiang, J Ye, C Gong, H Jiang… - Science …, 2022 - science.org
Faithful segregation of X and Y chromosomes requires meiotic recombination to form a
crossover between them in the pseudoautosomal region (PAR). Unlike autosomes that have …

[HTML][HTML] ZFP541 maintains the repression of pre-pachytene transcriptional programs and promotes male meiosis progression

J Xu, J Gao, J Liu, X Huang, H Zhang, A Ma, J Ye… - Cell Reports, 2022 - cell.com
The DSB machinery, which induces the programmed DNA double-strand breaks (DSBs) in
the leptotene and zygotene stages during meiosis, is suppressed before the onset of the …

Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees

X Xie, G Murtaza, Y Li, J Zhou, J Ye, R Khan… - Human …, 2022 - academic.oup.com
STUDY QUESTION Do variants in helicase for meiosis 1 (HFM1) account for male infertility
in humans? SUMMARY ANSWER Biallelic variants in HFM1 cause human male infertility …

Variations of C14ORF39 and SYCE1 Identified in Idiopathic Premature Ovarian Insufficiency and Nonobstructive Azoospermia

D Hou, C Yao, B Xu, W Luo, H Ke, Z Li… - The Journal of …, 2022 - academic.oup.com
Context Premature ovarian insufficiency (POI) and nonobstructive azoospermia (NOA) are
the most severe diseases causing irreversible infertility in females and males, respectively …

A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans

X Hou, A Zeb, S Dil, J Zhou, H Zhang, B Shi… - Frontiers in …, 2023 - frontiersin.org
The meiosis-specific LINC complex, composed of the KASH5 and SUN1 proteins, tethers the
moving chromosomes to the nuclear envelope to facilitate homolog pairing and is essential …

M1AP interacts with the mammalian ZZS complex and promotes male meiotic recombination

Y Li, Y Wu, I Khan, J Zhou, Y Lu, J Ye, J Liu, X Xie… - EMBO …, 2023 - embopress.org
Following meiotic recombination, each pair of homologous chromosomes acquires at least
one crossover, which ensures accurate chromosome segregation and allows reciprocal …