We are analyzing https://link.springer.com/article/10.1007/s00439-020-02159-x.

Title:
A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse | Human Genetics
Description:
Male infertility is a heterogeneous condition of largely unknown etiology that affects at least 7% of men worldwide. Classical genetic approaches and emerging next-generation sequencing studies support genetic variants as a frequent cause of male infertility. Meanwhile, the barriers to transmission of this disease mean that most individual genetic cases will be rare, but because of the large percentage of the genome required for spermatogenesis, the number of distinct causal mutations is potentially large. Identifying bona fide causes of male infertility thus requires advanced filtering techniques to select for high-probability candidates, including the ability to test causality in animal models. The mouse remains the gold standard for defining the genotype–phenotype connection in male fertility. Here, we present a best practice guide consisting of (a) major points to consider when interpreting next-generation sequencing data performed on infertile men, and, (b) a systematic strategy to categorize infertility types and how they relate to human male infertility. Phenotyping infertility in mice can involve investigating the function of multiple cell types across the testis and epididymis, as well as sperm function. These findings will feed into the diagnosis and treatment of male infertility as well as male health broadly.
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Keywords {🔍}

pubmed, google, scholar, cas, article, central, sperm, mouse, biol, cell, male, reprod, mice, genet, hum, infertility, spermatozoa, human, cells, development, spermatogenesis, mol, sci, function, epididymal, dev, testis, obryan, required, mammalian, httpsdoiorgbiolreprod, fertility, httpsdoiorg, role, analysis, httpsdoiorgs, httpsdoiorgjajhg, gene, nat, mutations, epididymis, plos, motility, endocrinology, stem, receptor, protein, genetic, capacitation, tyrosine,

Topics {✒️}

crispr/cas-mediated genome engineering month download article/chapter okadaic-acid-treated mouse spermatocytes acmg-amp variant-interpretation guidelines c57bl/6by inbred strains alkaline-activated ca2+ channel nonsense-mediated decay events nonsense-mediated mrna decay severe astheno-teratozoospermia due sperm mitochondria-specific translocator magnetic-activated cell sorting induce x-chromosome inactivation crispr/cas9-mediated modulation differential post-translational modifications hypothalamus-pituitary-gonad axis sperm-egg fusion assay s100a4-cre-mediated deletion grand central station age-related oxidative stress stage-specific spermatogenic cells human sperm mid-piece spaca1-deficient male mice ww-binding protein pawp high-resolution variant frequencies camp-dependent phosphorylation pathways sertoli cell-specific deletion genome-wide significance testing full article pdf spo11-mutant mouse meiocytes cell patch-clamp measurements a-kinase anchoring proteins mammalian blood-testis barrier bi-allelic recessive loss round spermatid-specific transcription post-testicular sperm maturation outer dynein arms lehti ms van vugt mj single-cell rna analysis o'bryan mk estrogen receptor gene nuclear membrane protein gonadal development implies o'brien da dynein arm function sinha hikim ap hoei-hansen ce testicular immune privilege dunleavy jem privacy choices/manage cookies

Questions {❓}

Kumar TR (2005) What have we learned about gonadotropin function from gonadotropin subunit and receptor knockout mice?
Schatten G, Simerly C, Schatten H (1991) Maternal inheritance of centrosomes in mammals?

Schema {🗺️}

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