Multiple morphological abnormalities of the sperm flagella (MMAF)-associated genes: The relationships between genetic variation and litter size in goats

Wang, Zhen; Pan, Yun; He, Libang; Song, Xiaoling; Chen, Hong; Pan, Chuanying; Liu, Qu; Zhu, Haijing; Lan, Xianyong

doi:10.1016/j.gene.2020.144778

Cited by 12 publications

(17 citation statements)

References 40 publications

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“…4 An increasing number of studies have explored the genetic etiology of MMAF, suggesting that MMAF is a disorder of highly heterogeneous genetic origin. 5,6 To date, 24 MMAF-associ-ated genes have been reported to be responsible for the occurrence of primary infertility without the manifestation of any symptoms of primary ciliary dyskinesia (PCD [MIM: 244400]), for example, recurrent respiratory infections and left-right laterality disturbances. [7][8][9][10] However, these findings are reported in approximately 60% of the MMAF-affected individuals, indicating the potential involvement of other genetic factors in asthenoteratozoospermia.…”

Section: Introductionmentioning

confidence: 99%

Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice

Cong

Zhang

et al. 2021

The American Journal of Human Genetics

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Section: Introductionmentioning

confidence: 99%

Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice

Cong

Zhang

et al. 2021

The American Journal of Human Genetics

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“…High prolificacy in goat breeding brings huge economic values. The lambing of goats as an important reproductive trait, is directly related with the economic benefits of the goat industry, therefore the breeding of goat variety with high fecundity is essential and necessary (Wang et al, 2020a(Wang et al, , 2021Zhang et al, 2020). Shaanbei white cashmere goat (SBWC) is an excellent domestic goat variety with fine cashmere and meat quality.…”

Section: Introductionmentioning

confidence: 99%

Goat AKAP12: Indel Mutation Detection, Association Analysis With Litter Size and Alternative Splicing Variant Expression

et al. 2021

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A-kinase anchoring protein 12 (AKAP12) plays key roles in male germ cells and female ovarian granulosa cells, whereas its influence on livestock litter size remains unclear. Herein we detected the genetic variants of AKAP12 gene and their effects on litter size as well as alternative splicing variants expression in Shaanbei white cashmere (SBWC) goats, aiming at exploring theoretical basis for goat molecular breeding. We identified two Insertion/deletions (Indels) (7- and 13-bp) within the AKAP12 gene. Statistical analyses demonstrated that the 13-bp indel mutation in the 3′ UTR was significantly associated with litter size (n = 1,019), and the carriers with DD genotypes presented lower litter sizes compared with other carriers (P < 0.01). Bioinformatics analysis predicted that this 13-bp deletion sequence could bind to the seed region of miR-181, which has been documented to suppress porcine reproductive and respiratory syndrome virus (PRRSV) infection by targeting PRRSV receptor CD163 and affect the pig litter size. Therefore, luciferase assay for this 13-bp indel binding with miRNA-181 was performed, and the luciferase activity of pcDNA-miR-181-13bp-Deletion-allele vector was significantly lower than that of the pcDNA-miR-181-13bp-Insertion-allele vector (P < 0.05), suggesting the reduced binding capability with miR-181 in DD genotype. Given that alternative spliced variants and their expression considerably account for the Indel genetic effects on phenotypic traits, we therefore detected the expression of the alternative spliced variants in different tissues and identified that AKAP12-AS2 exhibited the highest expression levels in testis tissues. Interestingly, the AKAP12-AS2 expression levels of homozygote DD carriers were significantly lower than that of individuals with heterozygote ID, in both testis and ovarian tissues (P < 0.05), which is consistent with the effect of the 13-bp deletion on the reduced litter size. Taken together, our results here suggest that this 13-bp indel mutation within goat AKAP12 might be utilized as a novel molecular marker for improving litter size in goat breeding.

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“…The distribution of InDel loci on the CFAP43 gene was mapped using Exon-Intron Graphic Make (http: //www.wormweb.org/exonintro) accessed on 22 July 2022. The full sequence of the CFAP43 gene was downloaded from the National Center for Biotechnology Information website (https://www.ncbi.nlm.nih.gov/) accessed on 22 July 2022, and the locations of the identified loci [9,10] were from the Ensembl database (http://asia.ensembl.org/index.html) accessed on 22 July 2022.…”

Section: Statistical Analysis and Cluster Analysismentioning

confidence: 99%

Relationships between the Mini-InDel Variants within the Goat CFAP43 Gene and Body Traits

Wang

et al. 2022

Animals

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The cilia- and flagella-associated protein 43 (CFAP43) gene encodes a member of the cilia- and flagellum-associated protein family. Cilia on the cell surface influence intercellular signaling and are involved in biological processes such as osteogenesis and energy metabolism in animals. Previous studies have shown that insertion/deletion (InDel) variants in the CFAP43 gene affect litter size in Shaanbei white cashmere (SBWC) goats, and that litter size and body traits are correlated in this breed. Therefore, we hypothesized that there is a significant relationship between InDel variants within the CFAP43 gene and body traits in SBWC goats. Herein, we first investigated the association between three InDel variant loci (L-13, L-16, and L-19 loci) within CFAP43 and body traits in SBWC goats (n = 1827). Analyses revealed that the L-13, L-16, and L-19 loci were significantly associated with chest depth, four body traits, and three body traits, respectively. The results of this study are in good agreement with those previously reported and could provide useful molecular markers for the selection and breeding of goats for body traits.

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Multiple morphological abnormalities of the sperm flagella (MMAF)-associated genes: The relationships between genetic variation and litter size in goats

Cited by 12 publications

References 40 publications

Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice

Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice

Goat AKAP12: Indel Mutation Detection, Association Analysis With Litter Size and Alternative Splicing Variant Expression

Relationships between the Mini-InDel Variants within the Goat CFAP43 Gene and Body Traits

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