Sperm and Testicular Function

The paper identifies a deletion in the BOLL gene in pigs causing defective acrosomes and subfertility.

The paper examines chromatin remodeling and gene expression dynamics in mouse spermatogonial cells across postnatal development using RNA-seq and ATAC-seq.

FertilityOnline identifies novel infertility-causing mutations in SYCE1 and STAG3 by integrating functional gene annotations and enabling variant analysis for male infertility research.

The paper creates a single-cell atlas of the murine epididymis and vas deferens, identifying cell types and their regional specialization, and revealing potential signaling networks.

This study investigates Prm2 deficiency in mice, showing it leads to oxidative stress and DNA damage during sperm maturation, affecting fertility.

This study identifies Wnt5a as a marker for steroidogenic progenitors that give rise to fetal and adult Leydig cells and peritubular myoid cells in the mouse testis.

This study shows DAZL regulates spermatogonial progenitor expansion and differentiation by enhancing translation of its target genes.

The paper identifies biallelic M1AP mutations as a cause of meiotic arrest and male infertility through whole exome sequencing and cohort screening.

This study identifies a conserved piRNA locus, pi6, essential for male mouse fertility and embryo viability by regulating sperm function through mRNA cleavage.

This study identifies EXOC1's role in regulating pseudopod formation in spermatogonia and syncytium formation in spermatocytes in mice, highlighting its interaction with Rac1 and SNAP23/STX2.

The paper uses single-cell RNA sequencing to compare spermatogenesis in human, macaque, and mouse testes, identifying conserved and divergent molecular features across species.

The Male Fertility Gene Atlas aggregates and integrates OMICs data from publications on male infertility to enable targeted search and meta-analysis of genetic and epigenetic factors.

The paper identifies a recessive allele in WDR19 associated with reduced semen quality and male fertility in cattle, showing it activates cryptic splicing and reduces protein expression.

This study creates a single-cell atlas of human testicular development and NOA patients, revealing Sertoli cell maturation defects and potential therapeutic strategies.

This study shows YTHDF2 is essential for mouse spermatogenesis and fertility by regulating transcript transitions during spermatogonial differentiation.

The paper identifies a NANOS1 mutation that switches its function from anti-apoptotic to pro-apoptotic in human germ cells by disrupting repression of pro-apoptotic genes.

The paper shows that mTas1r3+ cells are critical for sperm development and male fertility in mice, as their deletion causes infertility.

The paper analyzes vertebrate sperm protamine sequences to identify conserved residues and proposes dityrosine or cysteine-tyrosine cross-linking as mechanisms for protamine structure in metatherians.

This study identifies MFN2's role in spermatogenesis by interacting with Nuage proteins and translational machinery to regulate gamete-specific mRNA fates and male fertility.

This study shows that KIF9 is essential for male fertility by regulating flagellar waveforms in ciliated cells, as KIF9 knockout males are sterile despite normal sperm motility.

The paper characterizes the porcine sperm microbiome using RNA-seq, identifying bacterial phyla, potential pathogens, and antibiotic resistance genes associated with semen quality traits.

This study shows HIPK4 is essential for spermiogenesis and male fertility in mice, with defects in sperm head morphology and fertility.

The paper investigates the non-apoptotic role of cleaved caspase-3 in rat male germ cell development, showing its involvement in cell cycle regulation and quiescence.

This study identifies MGAT4D as a protective factor for male germ cells against mild heat stress, showing that its absence increases sensitivity to heat.

This study develops an automated platform to screen compounds against human sperm motility and acrosome reaction, identifying new contraceptive candidates from a large molecular library.

This study identifies NHR-23/NR1F1 as a critical regulator of spermatogenesis in C. elegans, functioning downstream of the sex determination pathway and independent of the SPE-44 network.

This study identifies distinct epigenetic programming in regenerative spermatogonial stem cells and progenitors in mouse testis using integrative epigenomic analysis.

This study identifies SYCP2 translocation and frameshift variants as causes of male infertility through genetic analysis and functional modeling in yeast.

The paper identifies genoinformative markers (GIMs) in mammalian spermatogenesis showing allelic expression bias, suggesting selective sweeps and evolutionary conflict between germline and somatic functions.

This paper shows that Fbxo7 is required for male fertility in mice, as its deficiency leads to sterile males with abnormal spermatid disposal during spermiogenesis.