GOLGA4, A Golgi matrix protein, is dispensable for spermatogenesis and male fertility in mice

Guo, Shuangshuang; Lv, Chunyu; Ouyang, Sijin; Wang, Xiaoli; Liao, Aihua; Yuan, Shuiqiao

doi:10.1016/j.bbrc.2020.05.170

Cited by 8 publications

(4 citation statements)

References 21 publications

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“…In chromosome 22, MLH1 , GOLGA4 , DLCK3 , and ITGA9 genes may be affected by hitchhiking effect, resulting in selection signals. Although GOLGA4 was highly expressed in the testis of mice, a study has already shown that the knockout mice did not show relevant male fertility disorders and the GOLGA4 gene may exist only as a redundant one ( Guo et al, 2020 ). In the adjacent region of the GOLGA4 gene, we found that the MLH1 gene also had a high signal, and it was one of the candidate genes related to heifer fertility ( Shi et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

Genomic Diversity and Selection Signatures for Weining Cattle on the Border of Yunnan-Guizhou

Liu

Cheng²,

Wang³

et al. 2022

Front. Genet.

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Weining cattle is a Chinese indigenous breed influenced by complex breeding and geographical background. The multi-ethnic breeding culture makes Weining cattle require more attention as livestock resources for its genetic diversity. Here, we used 10 Weining cattle (five newly sequenced and five downloaded) and downloaded another 48 genome data to understand the aspects of Weining cattle: genetic diversity, population structure, and cold-adapted performance. In the current study, a high level of genetic diversity was found in Weining cattle, and its breed comprised two potential ancestries, which were Bos taurus and Bos indicus. The positive selective sweep analysis in Weining cattle was analyzed using composite likelihood ratio (CLR) and nucleotide diversity (θπ), resulting in 203 overlapped genes. In addition, we studied the cold adaptation of Weining cattle by comparing with other Chinese cattle (Wannan and Wenshan cattle) by three methods (FST, θπ-ratio, and XP-EHH). Of the top 1% gene list, UBE3D and ZNF668 were analyzed, and these genes may be associated with fat metabolism and blood pressure regulation in cold adaptation. Our findings have provided invaluable information for the development and conservation of cattle genetic resources, especially in southwest China.

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Section: Discussionmentioning

confidence: 99%

Genomic Diversity and Selection Signatures for Weining Cattle on the Border of Yunnan-Guizhou

Liu

Cheng²,

Wang³

et al. 2022

Front. Genet.

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“…The coding regions and exon‐intron boundaries of the target genes were analyzed by NGS‐based amplicon sequencing. Mutation screening was carried out for 13 probably associated genes with male infertility, namely, OTOGL [ 6 ], DOCK8 [ 12 ], GOLGA4[ 13 ], SALL1 [ 14 ], NRAP [ 15 ], SMYD4 [ 15 ], SLITRK1 [ 15 ], COBL [ 16 ], ZNF214 [ 17 ], LRFN2 [ 18 ], LRPPRC [ 19 ], OR2W3 [ 20 ], and CCDC77 [ 15 ]. Mutation analysis showed that 8 missense mutations of OTOGL were identified in 47 cases with NOA (13.99 %) (Table 1 ), suggesting that OTOGL may be the cause of NOA.…”

Section: Resultsmentioning

confidence: 99%

OTOGL, a gelforming mucin protein, is nonessential for male germ cell development and spermatogenesis in mice

Zhang

et al. 2021

Reprod Biol Endocrinol

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Otogelin-like protein (encoded by Otogl) was highly structural similar to the gelforming mucin proteins. Although human OTOG mutations have been linked to deafness, the biological function of OTOGL in male germ cell development remains enigmatic. In screening 336 patients with non-obstructive azoospermia (NOA), OTOGL displays the high mutant ratio (13.99 %). Then, we examined the expression of OTOGL in developing mouse testes. Otogl mRNA and protein are continually expressed in postnatal developing testes from postnatal day 0 (P0) testes to P21 testes exhibiting a decreased trend with the age growth. We thus generated a global Otogl knockout mouse (KO) model using the CRISPR/Cas9 technology; however, Otogl KO mice displayed normal development and fertility. Further histological analysis of Otogl knockout mouse testes revealed that all types of spermatogenic cells are present in Otogl KO seminiferous tubules. Together, our study suggested that OTOGL is nonessential for male germ cell development and spermatogenesis.

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“…16 During acrosome biogenesis, numerous granules from trans-Golgi stacks form and then accumulate in the concave region of the nuclear surface, fusing into a large acrosome granule. 17 Many Golgi-associated proteins have been identified to be involved in this process, including GOLGA4, 18 GOPC, 19 GOLGA3, 20 and GM130. 21 The coiled-coil domain-containing (CCDC) family of proteins have a conserved coiled-coil motif that is responsible for molecular recognition and protein refolding.…”

Section: Introductionmentioning

confidence: 99%

“… 16 During acrosome biogenesis, numerous granules from trans‐Golgi stacks form and then accumulate in the concave region of the nuclear surface, fusing into a large acrosome granule. 17 Many Golgi‐associated proteins have been identified to be involved in this process, including GOLGA4, 18 GOPC, 19 GOLGA3, 20 and GM130. 21 …”

Section: Introductionmentioning

confidence: 99%

CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia‐related mutations in men

Zheng,

Gong,

et al. 2024

J Cellular Molecular Medi

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Oligoasthenoteratospermia (OAT), characterized by abnormally low sperm count, poor sperm motility, and abnormally high number of deformed spermatozoa, is an important cause of male infertility. Its genetic basis in many affected individuals remains unknown. Here, we found that CCDC157 variants are associated with OAT. In two cohorts, a 21‐bp (g.30768132_30768152del21) and/or 24‐bp (g.30772543_30772566del24) deletion of CCDC157 were identified in five sporadic OAT patients, and 2 cases within one pedigree. In a mouse model, loss of Ccdc157 led to male sterility with OAT‐like phenotypes. Electron microscopy revealed misstructured acrosome and abnormal head–tail coupling apparatus in the sperm of Ccdc157‐null mice. Comparative transcriptome analysis showed that the Ccdc157 mutation alters the expressions of genes involved in cell migration/motility and Golgi components. Abnormal Golgi apparatus and decreased expressions of genes involved in acrosome formation and lipid metabolism were detected in Ccdc157‐deprived mouse germ cells. Interestingly, we attempted to treat infertile patients and Ccdc157 mutant mice with a Chinese medicine, Huangjin Zanyu, which improved the fertility in one patient and most mice that carried the heterozygous mutation in CCDC157. Healthy offspring were produced. Our study reveals CCDC157 is essential for sperm maturation and may serve as a marker for diagnosis of OAT.

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GOLGA4, A Golgi matrix protein, is dispensable for spermatogenesis and male fertility in mice

Cited by 8 publications

References 21 publications

Genomic Diversity and Selection Signatures for Weining Cattle on the Border of Yunnan-Guizhou

Genomic Diversity and Selection Signatures for Weining Cattle on the Border of Yunnan-Guizhou

OTOGL, a gelforming mucin protein, is nonessential for male germ cell development and spermatogenesis in mice

CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia‐related mutations in men

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