Growth hormone and receptor gene mutations in Chinese Banna miniature pig

Deng, Jichao; Hao, Linlin; Li, M.T.; Lang, S.; Zeng, Yuhan; Liu, S.C.; Zhang, Y.L.

doi:10.1080/19768354.2011.616644

Cited by 5 publications

(2 citation statements)

References 16 publications

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“…In certain livestock animals, some dwarfism phenotypes are part of the breed standard, such as in Chinese Banna miniature pigs [5], Shetland Ponies [6], Dexter cattle [7], or West African Dwarf goats [8]. Sometimes, the dwarfs are obligate heterozygotes, and homozygous mutants are nonviable [9].…”

Section: Introductionmentioning

confidence: 99%

PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism

Garces

Turba²,

Muracchini

et al. 2021

Genes

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Dwarfism phenotypes occur in many species and may be caused by genetic or environmental factors. In this study, we investigated a family of nine Dogo Argentino dogs, in which two dogs were affected by disproportionate dwarfism. Radiographs of an affected dog revealed a decreased level of endochondral ossification in its growth plates, and a premature closure of the distal ulnar physes. The pedigree of the dogs presented evidence of monogenic autosomal recessive inheritance; combined linkage and homozygosity mapping assigned the most likely position of a potential genetic defect to 34 genome segments, totaling 125 Mb. The genome of an affected dog was sequenced and compared to 795 control genomes. The prioritization of private variants revealed a clear top candidate variant for the observed dwarfism. This variant, PRKG2:XM_022413533.1:c.1634 + 1G>T, affects the splice donor site and is therefore predicted to disrupt the function of the PKRG2 gene encoding protein, kinase cGMP-dependent type 2, a known regulator of chondrocyte differentiation. The genotypes of the PRKG2 variant were perfectly associated with the phenotype in the studied family of dogs. PRKG2 loss-of-function variants were previously reported to cause disproportionate dwarfism in humans, cattle, mice, and rats. Together with the comparative data from other species, our data strongly suggest PRKG2:c.1634+1G>T to be a candidate causative variant for the observed dwarfism phenotype in Dogo Argentino dogs.

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Section: Introductionmentioning

confidence: 99%

PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism

Garces

Turba²,

Muracchini

et al. 2021

Genes

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“…This body size variation has been undergoing artificial selection and has become part of the phenotypic definition of breed standards, e.g., for Dachshund and Chihuahua. More classic examples of reduced body size, intentionally selected within domesticated livestock species and defined as breed standard, include pigs (e.g., Banna miniature pig (Deng et al, 2011) and Gottingen miniture pig (Simianer and Köhn, 2010;Reimer et al, 2018)), horses (e.g., Shetland pony (Rafati et al, 2016)), and cattle (e.g., Dexter cattle (Cavanagh et al, 2007)). In poultry, usually chickens and ducks, dwarf organisms are sometimes called bantam.…”

Section: Dwarfism In Animals 121 Definition Of Dwarfismmentioning

confidence: 99%

Small chicken, big story: detection of the genetic background of dwarfism in chicken using genomic analyses

Wu¹

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Wu. Z. (2020). Small chicken, big story: Detection of the genetic background of dwarfism in chicken using genomic analyses. PhD thesis, Wageningen University and Research, the Netherlands.Body size of animals is a trait that has received a lot of interest and emphasis during domestication and breeding. The wide variation in size of domesticated animals is reflected in their genomes. An extreme size variation is dwarfism, a condition of unusually reduced growth caused by a variety of genetic components. In chicken, dwarfism is a complex trait studied and utilized for a long time. Because of the reduced body size, incorporating the dwarf trait into the breeding scheme can provide potential advantages and benefits. In this thesis, I focus on two types of dwarfism and analyze the genetic background of these dwarf phenotypes with respect to underlying genetic variants, gene expression, and population genomics. More specifically, I perform fine-mapping to detect the causative genetic variant underlying the autosomal dwarfism (adw) in chickens. Results demonstrate that a novel nonsense mutation in the TMEM263 gene is associated with the adw phenotype resulting in the premature termination of the open reading frame, and a truncation of the transmembrane protein.Moreover, I study the genetic basis of the bantam phenotype in Dutch traditional chicken breeds by using a variety of genomic analyses. Genome mapping and differential gene expression analysis identify novel candidate genes responsible for the bantam phenotype. The results further demonstrate the heterogeneity of this trait and the signaling pathways involved in growth. Furthermore, I focus on the admixed population structure of Dutch chicken breeds and show how human-mediated crossbreeding may influence the genomic landscape of a population in a complex manner. Collectively, I provide a comprehensive understanding of the genetic background of dwarf phenotypes in chicken, which not only can be utilized in poultry breeding but also provides a case study of utilizing multi-omics data to study the phenotype-genotype relation. Contents 1 General Introduction 9 2 A novel loss-of-function variant in transmembrane protein 263 (TMEM263) of autosomal dwarfism in chicken 29 3 Heterogeneity of a dwarf phenotype in Dutch traditional chicken breeds revealed by genomic analyses 47 4 Detection of differentially expressed genes in bantam chickens 75 5 Genomic insight into the influence of selection, geography, and crossbreeding on population structure 99 6 General Discussion Supplementary file Summary Acknowledgements Curriculum Vitae Colophon Islam, M. A. (2005). Sex-linked dwarf gene for broiler production in hot-humid climates. Asian-

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Distribution and linkage disequilibrium analysis of polymorphisms of GH1 gene in different populations of pigs associated with body size

Cheng

Liu

et al. 2016

J Genet

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Growth hormone (GH) has been considered as a candidate gene for growth and body size in pigs. In this study, polymorphisms of the GH1 gene were evaluated for associations with body size traits in 190 pig individuals. Seventeen single-nucleotide polymorphisms (SNPs) were identified in GH1 gene of the large pig breeds and miniature pig breeds using direct sequencing and genotyped by allele-specific PCR approach. Notably, six (g.237A>G, g.283T>C, g.309A>G, g.318A>G, g.540A>G and g.544A>G) of them were significantly associated with body size, of which three loci (g.283T>C, g.309A>G, g.318A>G) located in the signal-peptide coding region of GH1 gene compose a CGG haplotype for large pigs and TAA haplotype for miniature pigs (P <0.001), two loci (g.540A>G and g.544A>G) located in the second intron of GH1 gene compose a GG haplotype for large pigs and AA haplotype for miniature pigs (P < 0.001). Our results demonstrate that these SNPs in GH1 gene are associated with the body size of pigs providing genetic basis for pig breeding with the improved economic benefits.

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Growth hormone and receptor gene mutations in Chinese Banna miniature pig

Cited by 5 publications

References 16 publications

PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism

PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism

Small chicken, big story: detection of the genetic background of dwarfism in chicken using genomic analyses

Distribution and linkage disequilibrium analysis of polymorphisms of GH1 gene in different populations of pigs associated with body size

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