Hwang YS et al (2020) Reconstitution of prospermatogonial specification in vitro from human induced pluripotent stem cells. Nat Commun 11(1):5656. https://doi.org/10.1038/s41467-020-19350-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tüttelmann F, Ruckert C, Röpke A (2018) Disorders of spermatogenesis: perspectives for novel genetic diagnostics after 20 years of unchanged routine. Med Gen 30(1):12–20. https://doi.org/10.1007/s11825-018-0181-7

Article  CAS  Google Scholar 

Tuttelmann F, Ruckert C, Ropke A (2018) Disorders of spermatogenesis: perspectives for novel genetic diagnostics after 20 years of unchanged routine. Med Genet 30(1):12–20. https://doi.org/10.1007/s11825-018-0181-7

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coutton C et al (2015) Teratozoospermia: spotlight on the main genetic actors in the human. Hum Reprod Update 21(4):455–485. https://doi.org/10.1093/humupd/dmv020

Article  CAS  PubMed  Google Scholar 

Ray PF et al (2017) Genetic abnormalities leading to qualitative defects of sperm morphology or function. Clin Genet 91(2):217–232. https://doi.org/10.1111/cge.12905

Article  CAS  PubMed  Google Scholar 

Jiao SY, Yang YH, Chen SR (2021) Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice. Hum Reprod Update 27(1):154–189. https://doi.org/10.1093/humupd/dmaa034

Article  CAS  PubMed  Google Scholar 

Fawcett DW (1975) The mammalian spermatozoon. Dev Biol 44(2):394–436. https://doi.org/10.1016/0012-1606(75)90411-x

Article  CAS  PubMed  Google Scholar 

Russell LD, Russell J, MacGregor GR, Meistrich ML (1991) Linkage of manchette microtubules to the nuclear envelope and observations of the role of the manchette in nuclear shaping during spermiogenesis in rodents. Am J Anat 192(2):97–120. https://doi.org/10.1002/aja.1001920202

Article  CAS  PubMed  Google Scholar 

Eddy EM, Toshimori K, O’Brien DA (2003) Fibrous sheath of mammalian spermatozoa. Microsc Res Tech 61(1):103–115. https://doi.org/10.1002/jemt.10320

Article  CAS  PubMed  Google Scholar 

Miyata H, Morohoshi A, Ikawa M (2020) Analysis of the sperm flagellar axoneme using gene-modified mice. Exp Anim 69(4):374–381. https://doi.org/10.1538/expanim.20-0064

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhao W et al (2018) Outer dense fibers stabilize the axoneme to maintain sperm motility. J Cell Mol Med 22(3):1755–1768. https://doi.org/10.1111/jcmm.13457

Article  CAS  PubMed  Google Scholar 

Baltz JM, Williams P, Cone RA (1990) Dense fibers protect mammalian sperm against damage. Biol Reprod 43(3):485–491. https://doi.org/10.1095/biolreprod43.3.485

Article  CAS  PubMed  Google Scholar 

Escalier D, Toure A (2012) Morphological defects of sperm flagellum implicated in human male infertility. Med Sci 28(5):503–511. https://doi.org/10.1051/medsci/2012285015

Article  Google Scholar 

Touré A et al (2021) The genetic architecture of morphological abnormalities of the sperm tail. Hum Genet 140(1):21–42. https://doi.org/10.1007/s00439-020-02113-x

Article  CAS  PubMed  Google Scholar 

Wang J et al (2022) Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: a review of literature. Front Genet 13:1034951. https://doi.org/10.3389/fgene.2022.1034951

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang X et al (2017) Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese. Clin Genet 91(2):313–321. https://doi.org/10.1111/cge.12857c

Article  CAS  PubMed  Google Scholar 

Gao Y et al (2021) Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella. Reprod Biomed 42(5):963–972. https://doi.org/10.1016/j.rbmo.2021.01.011

Article  CAS  Google Scholar 

Lu S et al (2021) Bi-allelic variants in human WDR63 cause male infertility via abnormal inner dynein arms assembly. Cell Discov 7(1):110. https://doi.org/10.1038/s41421-021-00327-5

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tu C et al (2021) Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. Am J Hum Genet 108(8):1466–1477. https://doi.org/10.1016/j.ajhg.2021.06.010

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tu C et al (2019) Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella. Sci Rep 9(1):15864. https://doi.org/10.1038/s41598-019-52436-7

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wu H et al (2023) DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath. Cell Death Dis 14(2):127. https://doi.org/10.1038/s41419-023-05653-y

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen D et al (2021) A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patient. Reprod Biomed 43(5):920–930. https://doi.org/10.1016/j.rbmo.2021.07.005

Article  CAS  Google Scholar 

Xu Y et al (2022) Novel compound heterozygous variants in CCDC40 associated with primary ciliary dyskinesia and multiple morphological abnormalities of the sperm flagella. Pharmacogenomics Pers Med 15:341–350. https://doi.org/10.2147/PGPM.S359821

Article  Google Scholar 

Cong J et al (2022) Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice. J Med Genet 59(7):710–718. https://doi.org/10.1136/jmedgenet-2021-107919

Article  CAS  PubMed  Google Scholar 

Sha Y et al (2020) Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype. J Hum Genet 65(11):961–969. https://doi.org/10.1038/s10038-020-0790-2

Article  CAS  PubMed  Google Scholar 

Liu S et al (2021) CFAP61 is required for sperm flagellum formation and male fertility in human and mouse. Development. https://doi.org/10.1242/dev.199805

Article  PubMed  PubMed Central  Google Scholar 

Liu C et al (2021) Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. Am J Hum Genet 108(2):309–323. https://doi.org/10.1016/j.ajhg.2021.01.002

Article  CAS  PubMed  PubMed Central  Google Scholar 

He X et al (2020) Bi-allelic loss-of-function variants in CFAP58 cause flagellar axoneme and mitochondrial sheath defects and asthenoteratozoospermia in humans and mice. Am J Hum Genet 107(3):514–526. https://doi.org/10.1016/j.ajhg.2020.07.010

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tian S et al (2023) Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA. J Med Genet 60(8):827–834. https://doi.org/10.1136/jmg-2022-108887

Article  PubMed  Google Scholar 

Lu Y et al (2013) The compound heterozygous mutations of CFAP65 cause multiple morphological abnormalities of sperm flagella in infertile men. QJM. https://doi.org/10.1093/qjmed/hcad205

Article  PubMed  Google Scholar 

Beurois J et al (2019) CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report. Hum Reprod 34(10):2071–2079. https://doi.org/10.1093/humrep/dez166

Article  PubMed  Google Scholar 

Martinez G et al (2020) Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. J Med Genet 57(10):708–716. https://doi.org/10.1136/jmedgenet-2019-106775

Article  CAS  PubMed  Google Scholar 

Shen Q et al (2021) Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse. Hum Genet 140(9):1367–1377. https://doi.org/10.1007/s00439-021-02313-z

Article  CAS  PubMed  Google Scholar 

Auguste Y et al (2018) Loss of calmodulin- and radial-spoke-associated complex protein CFAP251 leads to immotile spermatozoa lacking mitochondria and infertility in men. Am J Hum Genet 103(3):413–420. https://doi.org/10.1016/j.ajhg.2018.07.013

Article  CAS  PubMed  PubMed Central