2021
Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice
Hwang JY, Nawaz S, Choi J, Wang H, Hussain S, Nawaz M, Lopez-Giraldez F, Jeong K, Dong W, Oh JN, Bilguvar K, Mane S, Lee CK, Bystroff C, Lifton RP, Ahmad W, Chung JJ. Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice. Frontiers In Cell And Developmental Biology 2021, 9: 662903. PMID: 33968937, PMCID: PMC8103034, DOI: 10.3389/fcell.2021.662903.Peer-Reviewed Original ResearchMultiple morphological abnormalitiesMale infertility casesMorphological abnormalitiesWhole-exome sequencingIrregular flagellaInfertility casesSperm flagella formationMMAF phenotypeSevere formMale infertilityAsthenozoospermic patientsMutant miceNon-synonymous variantsAbnormalitiesRecessive variantsCellular mechanismsGenetic factorsMMAFGenetic defectsPatientsMiceHeavy chain domainSperm morphologyAsthenozoospermiaSperm motility
2017
CatSperζ regulates the structural continuity of sperm Ca2+ signaling domains and is required for normal fertility
Chung JJ, Miki K, Kim D, Shim SH, Shi HF, Hwang JY, Cai X, Iseri Y, Zhuang X, Clapham DE. CatSperζ regulates the structural continuity of sperm Ca2+ signaling domains and is required for normal fertility. ELife 2017, 6: e23082. PMID: 28226241, PMCID: PMC5362262, DOI: 10.7554/elife.23082.Peer-Reviewed Original ResearchConceptsMammalian female reproductive tractSevere male subfertilityFemale reproductive tractIon channel complexNovel subunitCatSper complexEvolutionary adaptationMale subfertilityReproductive tractMouse spermSperm Ca2Normal fertilityTargeted disruptionSperm cellsFlagellaChannel complexFemale uterusSubunitsEpididymal spermatozoaSpermComplexesFertilizationSubfertilityUterusMice