CFAP70 is a solid and valuable target for the genetic diagnosis of oligo-astheno-teratozoospermia in infertile men

Jin, Hui-Juan; Wang, Junli; Geng, Xiaojun; Wang, Chunyan; Wang, Binbin; Chen, Su‐Ren

doi:10.1016/j.ebiom.2023.104675

Cited by 17 publications

(9 citation statements)

References 69 publications

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“…The sgRNAs are provided in Figure S1 in Figure 4—figure supplement 1 and primers for genotyping are listed in Figure 4—table supplement 1 . The detailed procedure of fertility testing and intracytoplasmic sperm injection (ICSI) was performed as previously described ( Jin et al, 2023 ; Zhang et al, 2022a ).…”

Section: Methodsmentioning

confidence: 99%

“…Samples were fixed with 2.5% glutaraldehyde (Zhongjingkeyi Technology, China) in 0.1 M phosphate buffer (PB) (pH 7.4). The detailed procedure of transmission electron microscopy (TEM) and scanning electron microscopy (TEM) was described in our previous studies ( Jin et al, 2023 ; Zhang et al, 2022a ; Zhang et al, 2022b ). For TEM, specimens were photography with a Tecnai G2 Spirit 120 kV (FEI) electron microscope; for SEM, specimens were viewed with a JSM-IT300 scanning electron microscope (JEOL, Japan).…”

Section: Methodsmentioning

confidence: 99%

“…The detailed procedure of co-IP and Western blotting was described in our previous studies ( Jin et al, 2023 ; Zhang et al, 2022a ; Zhang et al, 2022b ). Pierce™ IP Lysis Buffer and Pierce™ Protein A/G-conjugated Agarose (Thermo Fisher, USA) were used in co-IP experiment.…”

Section: Methodsmentioning

confidence: 99%

“…With the development of whole-exome sequencing (WES) technology, DNAH1 , CFAP43 , CFAP44 , CFAP69 , CFAP251 , ARMC2 , TTC21A , TTC29 , CFAP58 , CFAP91 , DNAH8 , CFAP47 , DNAH10 , DNAH17 , and WDR63 ( Ben et al, 2014 ; Coutton et al, 2019 ; Dong et al, 2018 ; He et al, 2020 ; Kherraf et al, 2018 ; Liu et al, 2019 ; Liu et al, 2020 ; Liu et al, 2021 ; Lu et al, 2021 ; Martinez et al, 2020 ; Tang et al, 2017 ; Tu et al, 2021 ; Wang et al, 2019 ; Zhang et al, 2020 ) have been suggested as MMAF-associated genes. Our groups have reported mutations in CFAP65 , QRICH2 , CEP78 , CEP128 , CFAP70 , and AKAP3 in Chinese patients with MMAF ( Jin et al, 2023 ; Shen et al, 2019 ; Zhang et al, 2019 ; Zhang et al, 2022a ; Zhang et al, 2022b ; Yang et al, 2020 ). However, the etiology of MMAF remains incompletely understood.…”

Section: Introductionmentioning

confidence: 92%

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Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development

Jin,

Ruan,

Dai

et al. 2023

Preprint

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Male infertility is a worldwide population health concern. Asthenoteratozoospermia is a common cause of male infertility, but its etiology remains incompletely understood. No evidence indicates the relevance ofCFAP52mutations to human male infertility. Our whole-exome sequencing identified compound heterozygous mutations inCFAP52recessively cosegregating with male infertility status in a non-consanguineous Chinese family. Spermatozoa ofCFAP52-mutant patient mainly exhibited abnormal head-tail connection and deformed flagella.Cfap52-knockout mice resembled the human infertile phenotype, showing a mixed acephalic spermatozoa syndrome (ASS) and multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. The ultrastructural analyses further revealed a failure of connecting piece formation and a serious disorder of ‘9+2’ axoneme structure. CFAP52 interacts with a head-tail coupling regulator SPATA6 and is essential for its stability. Expression of microtubule inner proteins and radial spoke proteins were reduced after the CFAP52 deficiency. Moreover, CFAP52-associated male infertility in humans and mice could be overcome by ICSI. The study reveals a prominent role for CFAP52 in sperm development, suggesting that CFAP52 might be a novel diagnostic target for male infertility with defects of sperm head-tail connection and flagella development

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 92%

See 2 more Smart Citations

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development

Jin,

Ruan,

Dai

et al. 2023

Preprint

Self Cite

View full text Add to dashboard Cite

show abstract

“…With the development of whole-exome sequencing (WES) technology, DNAH1, CFAP43, CFAP44, CFAP69, CFAP251, ARMC2, TTC21A, TTC29, CFAP58, CFAP91, DNAH8, CFAP47, DNAH10, DNAH17, and WDR63 Ben Khelifa et al, 2014 ; Coutton et al, 2019 ; Dong et al, 2018 ; He et al, 2020 ; Kherraf et al, 2018 ; Liu et al, 2019 ; Liu et al, 2020a ; Liu et al, 2021 ; Lu et al, 2021a ; Martinez et al, 2020 ; Tang et al, 2017 ; Tu et al, 2021 ; Wang et al, 2019 ; Zhang et al, 2020 have been suggested as MMAF-associated genes. Our groups have reported mutations in CFAP65, QRICH2, CEP78, CEP128, CFAP70, and AKAP3 in Chinese patients with MMAF ( Jin et al, 2023 ; Shen et al, 2019 ; Zhang et al, 2019 ; Zhang et al, 2022a ; Zhang et al, 2022b ; Yang et al, 2020 ). However, the etiology of MMAF remains incompletely understood.…”

Section: Introductionmentioning

confidence: 92%

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development

Jin,

Ruan,

Dai

et al. 2023

eLife

Self Cite

View full text Add to dashboard Cite

Male infertility is a worldwide population health concern. Asthenoteratozoospermia is a common cause of male infertility, but its etiology remains incompletely understood. No evidence indicates the relevance of CFAP52 mutations to human male infertility. Our whole-exome sequencing identified compound heterozygous mutations in CFAP52 recessively cosegregating with male infertility status in a non-consanguineous Chinese family. Spermatozoa of CFAP52-mutant patient mainly exhibited abnormal head-tail connection and deformed flagella. Cfap52-knockout mice resembled the human infertile phenotype, showing a mixed acephalic spermatozoa syndrome (ASS) and multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. The ultrastructural analyses further revealed a failure of connecting piece formation and a serious disorder of ‘9+2’ axoneme structure. CFAP52 interacts with a head-tail coupling regulator SPATA6 and is essential for its stability. Expression of microtubule inner proteins and radial spoke proteins were reduced after the CFAP52 deficiency. Moreover, CFAP52-associated male infertility in humans and mice could be overcome by intracytoplasmic sperm injection (ICSI). The study reveals a prominent role for CFAP52 in sperm development, suggesting that CFAP52 might be a novel diagnostic target for male infertility with defects of sperm head-tail connection and flagella development

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Genetic etiological spectrum of sperm morphological abnormalities

Arora,

Mehta,

Sethi

et al. 2024

J Assist Reprod Genet

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CFAP70 is a solid and valuable target for the genetic diagnosis of oligo-astheno-teratozoospermia in infertile men

Cited by 17 publications

References 69 publications

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development

Genetic etiological spectrum of sperm morphological abnormalities

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