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Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella

Xiaojin He,Weiyu Li, Huan Wu, Mingrong Lv, Wangjie Liu, Chunyu Liu, Fuxi Zhu, Caihua Li, Youyan Fang, Chenyu Yang, Huiru Cheng, Junqiang Zhang, Jing Tan, Tingting Chen, Dongdong Tang, Bing Song, Xue Wang, Xiaomin Zha, Hongyan Wang, Zhaolian Wei, Shenmin Yang, Hexige Saiyin, Ping Zhou, Li Jin, Jian Wang, Zhiguo Zhang, Feng Zhang, Yunxia Cao, 22.01.2019

HE, Xiaojin, et al. Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella. Journal of medical genetics, 2019, 56. Jg., Nr. 2, S. 96-103.

Publication: http://dx.doi.org/10.1136/jmedgenet-2018-105486

Disclaimer

The publication Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella by Xiaojin He,Weiyu Li, Huan Wu, Mingrong Lv, Wangjie Liu, Chunyu Liu, Fuxi Zhu, Caihua Li, Youyan Fang, Chenyu Yang, Huiru Cheng, Junqiang Zhang, Jing Tan, Tingting Chen, Dongdong Tang, Bing Song, Xue Wang, Xiaomin Zha, Hongyan Wang, Zhaolian Wei, Shenmin Yang, Hexige Saiyin, Ping Zhou, Li Jin, Jian Wang, Zhiguo Zhang, Feng Zhang, Yunxia Cao is not published under an open access license. Therefore, only content curated by the MFGA team can be shown. For abstract, images and tables please follow the link to the original publication.

Curation by the MFGA team
Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information, conditions, processed tissue types and processed cell types) have been added based on information from the publication.

Data set 1: Identification of homozygous frameshift mutation (p.leu357Hisfs*11) in CFAP69 (cilia and flagella-associated protein 69)

Exome: Whole Exome Sequencing

Species

Species
Human

Conditions

Human phenotype ontology Participants Comment
HP:0012868: Abnormal sperm tail morphology 1 male individual with MMAF= Multiple morphological abnormalities of the flagella from a consanguineous Han chinese family (A001)

Cell Types

Cell ontology Maturity Description Species Replicates Cells per replicate
CL_0000081: blood cell Adult peripheral blood cells for WES Human
CL_0000019: sperm Adult investigation flagella anomaly Human

Data set 2: Roles of CFAP69 in sperm flagellar formation

Proteome: Immunohistochemistry

Species

Species
Human

Conditions

Human phenotype ontology Participants Comment
HP:0012868: Abnormal sperm tail morphology 34 Han chinese men with MMAF, Nine of them were enrolled from consanguineous families
HP:control 1 Fertile

Cell Types

Cell ontology Maturity Description Species Replicates Cells per replicate
CL_0000019: sperm Adult MMAF and Control Human

Data set 3: Cfap69 knockout (KO) leads to male infertility and sperm flagellar malformation in mice

Proteome: Immunohistochemistry

Species

Species
Mouse

Tissue Types

BRENDA tissue ontology Maturity Description Species Replicates
BTO_0001363: testis Adult Mouse
BTO_0000408: epididymis Adult Human

Cell Types

Cell ontology Maturity Description Species Replicates Cells per replicate
CL_0000019: sperm Adult Mouse