Novel Variants in GDF9 Gene Affect Promoter Activity and Litter Size in Mongolia Sheep

Tong, Bin; Wang, Jiapeng; Cheng, Zixuan; Liu, Jiasen; Wu, Yiran; Li, Yunhua; Bai, Chunling; Zhao, Suwen; Yu, Hao; Li, Guangpeng

doi:10.3390/genes11040375

Cited by 21 publications

(21 citation statements)

References 59 publications

(79 reference statements)

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“…In this study, litter size was significantly affected by G1 point mutation of GDF9 gene, where heterozygous genotypes presented higher litter size (1.386±0.046) compared to the wild-type genotype (1.247±0.033) and homozygous carrier ewes (1.040±0.094). This result is in agreement with those obtained in Belclare and Cambridge breeds [22], Romanov sheep [23], and Mongolia sheep [49]. However , Liandris et al [42] reported a non-significant association between the mutation in the GDF9 gene and litter size in Karagouniki breed.…”

Section: Source Of Variation Df Sm Ms F-ratio Pr>fsupporting

confidence: 91%

G1 point mutation in growth differentiation factor 9 gene affects litter size in Sudanese desert sheep

et al. 2021

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Background and Aim: Sudanese desert sheep encompass different sheep breeds named according to the different Sudanese tribes that rear them such as the Dubasi, Shugor, and Watish sheep. The objectives of this study were to screen for G1 point mutation in the polymorphic growth differentiation factor 9 (GDF9) gene, investigate its association with litter size, and construct the phylogeny of the different tribal breeds that belong to the Sudanese Desert sheep tribal types. Materials and Methods: Genomic DNA was extracted from whole blood of three tribal Desert sheep breeds (Dubasi, Watish, and Shugor) using the guanidine chloride method. Polymerase chain reaction-restriction fragment length polymorphism with HhaI restriction enzyme and sequencing techniques was used for genotyping the GDF9 locus for possible mutations associated with litter size in the three desert sheep tribal types. Results: G1 mutation in GDF9 caused the replacement of Arginine by Histidine at residue 87. The wild type allele (A) had the highest frequency, whereas the mutant type allele (a) had the lowest in all the sequenced subtypes. The genotype frequencies of the wild type ewes (AA) were higher than the heterozygous (Aa) and the mutant type (aa) frequencies in the three studied desert sheep types. No significant differences were found in the allele frequency between the three tribal types. Litter size was significantly influenced by the genotypes of GDF9 gene, parities, and subtypes (p≤0.01, 0.01, and 0.05, respectively). In the Watish sheep type, heterozygous sheep in their second parity recorded the highest litter size. Sequence alignment of GDF9 gene samples with the database entry indicated that all three tribal types were similar and identical to the reference sequence. The phylogenetic tree revealed that Shugor is the common ancestor of the studied types and Watish is more closely related to Shugor than Dubasi. This result mi ght partly explain the lower reproductive performance of Dubasi compared to Watish and Shugor. Conclusion: The presence of one copy of GDF9 gene increased litter size in the studied Sudanese Desert sheep. This locus may be used as a biomarker for litter size improvement through genotypic selection and allele or gene introgression.

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Section: Source Of Variation Df Sm Ms F-ratio Pr>fsupporting

confidence: 91%

G1 point mutation in growth differentiation factor 9 gene affects litter size in Sudanese desert sheep

et al. 2021

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“…The possible reason is the transcriptional silencing caused by chromatin condense after nuclear membrane breakdown [22] and that deposited maternal RNAs were selectively degraded during the GV to MII transition [23]. Maternal genes play important roles in oocyte maturation, and GDF9 and BMP15, which are considered essential during oocyte development, maturation, and fertilization, were also identified in a comparison of bovine GV and MII oocytes [15,[24][25][26][27]. Down-regulating GDF9 can induce intraovarian hyperandrogenism and finally lead to follicular arrest [28].…”

Section: Discussionmentioning

confidence: 99%

Single-Cell RNA-Seq Revealed the Gene Expression Pattern during the In Vitro Maturation of Donkey Oocytes

Li¹,

Song²,

Yin

et al. 2021

Genes

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Donkeys are an important domesticated animal, providing labor, meat, milk, and medicinal materials for humans. However, the donkey population is continuously declining and even at risk of extinction. The application of modern animal production technology, such as oocyte in vitro maturation, is a promising method to improve the donkey population. In this study, we explore the gene expression patterns of donkey germinal vesicle (GV) and in vitro matured metaphase II (MII) oocytes using single cell RNA-seq of the candidate genes along with the regulatory mechanisms that affect donkey oocyte maturation. We identified a total of 24,164 oocyte genes of which 9073 were significant differentially expressed in the GV and MII oocytes. Further Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis indicated that these genes were associated with the meiotic cell cycle, mitochondrion activity, and N-glycan biosynthesis, which might be the key genes and regulatory mechanisms affecting the maturation of donkey oocytes. Our study provides considerable understanding regarding the maturation of donkey oocytes and serves as a theoretical basis for improving the development of donkey oocytes, which could ultimately benefit the expansion of the donkey population and conservation of biodiversity and genetic resources.

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“…In previous studies, many mutations in the gene were identified in Belclare sheep ( FecG F ) [ 4 ] of Europe, Iranian Afshari sheep (G2, G3, and G4) [ 5 ] and Fat-Tailed sheep (G1, G2, G3, and G4) [ 6 ] of Middle Eastern origin, and Rahmani sheep ( FecG H ) [ 7 ] of Africa. It was reported that c.978A>G and c.994G>A, FecG H , c.1040T>C (Phe 347 Ser) were associated with litter size in Araucana creole, Rahmani, and Mongolia sheep [ 7 , 8 , 9 ], respectively.…”

Section: Introductionmentioning

confidence: 99%

Polymorphism Detection of GDF9 Gene and Its Association with Litter Size in Luzhong Mutton Sheep (Ovis aries)

Wang

Chu

Pan

et al. 2021

Animals

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Litter size is one of the most important economic traits in sheep. GDF9 and BMPR1B are major genes affecting the litter size of sheep. In this study, the whole coding region of GDF9 was sequenced and all the SNPs (single nucleotide polymorphisms) were determined in Luzhong mutton ewes. The FecB mutation was genotyped using the Sequenom MassARRAY®SNP assay technology. Then, the association analyses between polymorphic loci of GDF9 gene, FecB, and litter size were performed using a general linear model procedure. The results showed that eight SNPs were detected in GDF9 of Luzhong mutton sheep, including one novel mutation (g.41769606 T > G). The g.41768501A > G, g.41768485 G > A in GDF9 and FecB were significantly associated with litter size in Luzhong mutton ewes. The g.41768485 G > A is a missense mutation in the mature GDF9 protein region and is predicted to affect the tertiary structure of the protein. The results preliminarily demonstrated that GDF9 was a major gene affecting the fecundity of Luzhong mutton sheep and the two loci g.41768501A > G and g.41768485 G > A may be potential genetic markers for improving litter size.

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Novel Variants in GDF9 Gene Affect Promoter Activity and Litter Size in Mongolia Sheep

Cited by 21 publications

References 59 publications

G1 point mutation in growth differentiation factor 9 gene affects litter size in Sudanese desert sheep

G1 point mutation in growth differentiation factor 9 gene affects litter size in Sudanese desert sheep

Single-Cell RNA-Seq Revealed the Gene Expression Pattern during the In Vitro Maturation of Donkey Oocytes

Polymorphism Detection of GDF9 Gene and Its Association with Litter Size in Luzhong Mutton Sheep (Ovis aries)

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