A 21-bp indel within the <i>LLGL1</i> gene is significantly associated with litter size in goat

Liu, Nuan; Cui, Wenbo; Chen, Mingyue; Zhang, Xuelian; Song, Xiaoling; Pan, Chuanying

doi:10.1080/10495398.2019.1677682

Cited by 11 publications

(5 citation statements)

References 27 publications

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“…Mutations including the gene region on chr 17 cause Smith Magenis syndrome, a disorder of developmental delay, behavioral abnormalities, sleep disturbance and abdominal obesity. An indel upstream of LLGL1 in Shaanbei White Cashmere goats is associated with change in litter size 96 . BOD1L1 stabilizes RAD51 at the site of DNA replication forks 97 .…”

Section: Discussionmentioning

confidence: 97%

Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency

Gorsi

Hernandez

Moore

et al. 2021

Preprint

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A genetic etiology accounts for unexplained primary ovarian insufficiency (POI; amenorrhea with an elevated FSH level). Subjects with POI (n=291) and controls recruited for health in old age or 1000 Genomes (n=233) underwent whole exome or whole genome sequencing. Data were analyzed using a rare variant scoring method and a Bayes factor-based framework for identifying genes harboring pathogenic variants. Candidate heterozygous variants were identified in known genes and genes with functional evidence. Gene sets with increased burden of deleterious alleles included the categories transcription and translation, DNA damage and repair, meiosis and cell division. Variants were found in novel genes from the enhanced categories. Functional evidence supported 7 new risk genes for POI (USP36, VCP, WDR33, PIWIL3, NPM2, LLGL1 and BOD1L1). Aggregating clinical data and genetic risk with a categorical approach may expand the genetic architecture of heterozygous rare gene variants causing risk for POI.

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Section: Discussionmentioning

confidence: 97%

Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency

Gorsi

Hernandez

Moore

et al. 2021

Preprint

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“…These variations might have effects on animal phenotype traits, which were particularly important for the evolution and continuation of animals. Currently, SV have attracted more attentions because of their potential applications in animal breeding due to their broader coverage [ 27 , 28 ].…”

Section: Discussionmentioning

confidence: 99%

Effects of Genetic Variation of the Sorting Nexin 29 (SNX29) Gene on Growth Traits of Xiangdong Black Goat

Chen

Yang

Lin

et al. 2022

Animals

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Previous studies have found that the copy number variation (CNV) and insertion/deletion (indels) located in the sorting nexin 29 (SNX29) gene, which is an important candidate gene related to meat production and quality, are associated with growth traits of African goats and Shaanbei white cashmere goats. However, the genetic effects of SNX29 genetic variation on growth traits of Xiangdong black (XDB) goat (a representative meat goat breed in China) are still unclear. The purpose of this study was to detect the mRNA expression level of SNX29 and to explore the genetic effects of CNV and indel within SNX29 on growth traits and gene expression in XDB goat. The SNX29 mRNA expression profile showed that the SNX29 was highly expressed in adipose tissues, indicating that the SNX29 gene could play a key role in subcutaneous adipose deposition of XDB goat. 17 bp indel (g.10559298-10559314), 21 bp indel (g.10918982-10919002) and CNV were detected in 516 individuals of XDB goat by PCR or qPCR. The association analysis of SNX29 CNV with growth traits in XDB goats showed that SNX29 CNV was significantly correlated with chest circumference and abdominal circumference (p < 0.01), and the normal type of SNX29 CNV goat individuals were more advantageous. For the mRNA expression of SNX29 gene, individuals with SNX29 copy number normal type had a higher trend than that of SNX29 gene with copy number gain type in longissimus dorsi muscle (p = 0.07), whereas individuals with SNX29 copy number gain type had a higher trend in abdominal adipose (p = 0.09). Overall, these results suggested that the SNX29 gene could play an important role in growth and development of XDB goats and could be used for marker-assisted selection (MAS) in XDB goats.

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“…Goat breeding accounts for a very large proportion in China's animal husbandry production. As a dual-use species for fluff, Shaanbei white cashmere goats have the largest breeding stock in Shaanxi [31][32][33]. Therefore, improving goat production performance has an important role in increasing economic income.…”

Section: Discussionmentioning

confidence: 99%

Exploration of Genetic Variants within the Goat A-Kinase Anchoring Protein 12 (AKAP12) Gene and Their Effects on Growth Traits

Bai

Yuan

Luo

et al. 2021

Animals

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The A-kinase anchoring protein 12 gene (AKAP12) is a scaffold protein, which can target multiple signal transduction effectors, can promote mitosis and cytokinesis and plays an important role in the regulation of growth and development. In our previous study, P1–7 bp (intron 3) and P2–13 bp (3′UTR) indels within the AKAP12 gene significantly influenced AKAP12 gene expression. Therefore, this study aimed to identify the association between these two genetic variations and growth-related traits in Shaanbei white cashmere goats (SBWC) (n = 1405). Herein, we identified two non-linkage insertions/deletions (indels). Notably, we found that the P1–7 bp indel mutation was related to the height at hip cross (HHC; p < 0.05) and the P2–13 bp indel was associated with body weight, body length, chest depth, chest width, hip width, chest circumference and cannon (bone) circumference in SBWC goats (p < 0.05). Overall, the two indels’ mutations of AKAP12 affected growth traits in goats. Compared to the P1–7 bp indel, the P2–13 bp indel is more suitable for the breeding of goat growth traits.

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A 21-bp indel within the LLGL1 gene is significantly associated with litter size in goat

Cited by 11 publications

References 27 publications

Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency

Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency

Effects of Genetic Variation of the Sorting Nexin 29 (SNX29) Gene on Growth Traits of Xiangdong Black Goat

Exploration of Genetic Variants within the Goat A-Kinase Anchoring Protein 12 (AKAP12) Gene and Their Effects on Growth Traits

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