Spermatogenesis in humans and its affecting factors

FTL Neto, PV Bach, BB Najari, PS Li… - Seminars in cell & …, 2016 - Elsevier
Spermatogenesis is an extraordinary complex process. The differentiation of spermatogonia
into spermatozoa requires the participation of several cell types, hormones, paracrine …

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 …

Single-cell RNA-seq reveals lineage and X chromosome dynamics in human preimplantation embryos

S Petropoulos, D Edsgärd, B Reinius, Q Deng… - Cell, 2016 - cell.com
Mouse studies have been instrumental in forming our current understanding of early cell-
lineage decisions; however, similar insights into the early human development are severely …

Spermatogenic failure and the Y chromosome

C Krausz, E Casamonti - Human genetics, 2017 - Springer
The Y chromosome harbors a number of genes essential for testis development and
function. Its highly repetitive structure predisposes this chromosome to deletion/duplication …

Clinical genetic testing for male factor infertility: current applications and future directions

J Hotaling, DT Carrell - Andrology, 2014 - Wiley Online Library
Spermatogenesis involves the aggregated action of up to 2300 genes, any of which, could,
potentially, provide targets for diagnostic tests of male factor infertility. Contrary to the …

Genetics of male infertility

FTL Neto, PV Bach, BB Najari, PS Li… - Current urology reports, 2016 - Springer
While 7% of the men are infertile, currently, a genetic etiology is identified in less than 25%
of those men, and 30% of the infertile men lack a definitive diagnosis, falling in the …

Early programming of the oocyte epigenome temporally controls late prophase I transcription and chromatin remodelling

P Navarro-Costa, A McCarthy, P Prudêncio… - Nature …, 2016 - nature.com
Oocytes are arrested for long periods of time in the prophase of the first meiotic division
(prophase I). As chromosome condensation poses significant constraints to gene …

Genetics of male infertility

JM Hotaling - Urologic Clinics, 2014 - urologic.theclinics.com
Approximately 1 in 6 couples in the Western world is not able to conceive spontaneously
after 1 year of unprotected intercourse; in nearly half of these couples, the male partner has …

Repetitive DNA sequences in the human Y chromosome and male infertility

Y Xu, Q Pang - Frontiers in Cell and Developmental Biology, 2022 - frontiersin.org
The male-specific Y chromosome, which is well known for its diverse and complex repetitive
sequences, has different sizes, genome structures, contents and evolutionary trajectories …

Transcript isoform diversity of ampliconic genes on the Y chromosome of great apes

M Tomaszkiewicz, K Sahlin, P Medvedev… - Genome biology and …, 2023 - academic.oup.com
Y chromosomal ampliconic genes (YAGs) are important for male fertility, as they encode
proteins functioning in spermatogenesis. The variation in copy number and expression …