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
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
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
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 |
|
|