scholarly journals Coat Color Roan Shows Association with KIT Variants and No Evidence of Lethality in Icelandic Horses

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 680 ◽  
Author(s):  
Katharina Voß ◽  
Julia Tetens ◽  
Georg Thaller ◽  
Doreen Becker
Keyword(s):  
Sanger Sequencing ◽  
Coat Color ◽  
Dominant Mode ◽  
White Hair ◽  
Causative Mutation ◽  
Horse Breed ◽  
Homozygous Condition ◽  
Kit Gene ◽  
Icelandic Horses ◽  
Descriptive Statistical Analysis

Roan (Rn) horses show a typical seasonal change of color. Their body is covered with colored and white hair. We performed a descriptive statistical analysis of breeding records of Icelandic horses to challenge the hypothesis of roan being lethal in utero under homozygous condition. The roan to non-roan ratio of foals from roan × roan matings revealed homozygous roan Icelandic horses to be viable. Even though roan is known to be inherited in a dominant mode and epistatic to other coat colors, the causative mutation is still unknown. Nevertheless, an association between roan phenotype and the KIT gene was shown for different horse breeds. In the present study, we identified KIT variants by Sanger sequencing, and show that KIT is also associated with roan in the Icelandic horse breed.

White hair coat color does not influence heat tolerance of sheep grazing under a hot arid environment

2021 ◽  
pp. 106410
Author(s):  
Ahmed Abrahim Al-Haidary ◽  
Yusuf Al-Dosari ◽  
Abd-Elatif Abd-Elwahab ◽  
Emad Mohamed Samara ◽  
Mohammed Abdo Al-Badwi ◽  
...  
Keyword(s):  
Heat Tolerance ◽  
Coat Color ◽  
Arid Environment ◽  
White Hair ◽  
Sheep Grazing ◽  
Hair Coat

scholarly journals Analysis of ROH patterns in the Noriker horse breed reveals signatures of selection for coat color and body size

2019 ◽  
Vol 50 (4) ◽  
pp. 334-346 ◽  
Author(s):  
G. Grilz‐Seger ◽  
T. Druml ◽  
M. Neuditschko ◽  
M. Mesarič ◽  
M. Cotman ◽  
...  
Keyword(s):  
Body Size ◽  
Coat Color ◽  
Horse Breed ◽  
Signatures Of Selection ◽  
Selection For

scholarly journals Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buffaloes (Bubalus bubalis)

2020 ◽  
Author(s):  
Dong Liang ◽  
Pengju Zhao ◽  
Jingfang Si ◽  
Lingzhao Fang ◽  
Erola Pairo-Castineira ◽  
...  
Keyword(s):  
Genome Wide Association Study ◽  
Population Genomics ◽  
Coat Color ◽  
Phylogenetic Analyses ◽  
Regulation Of Gene Expression ◽  
Fold Increase ◽  
Bubalus Bubalis ◽  
Proximal Promoter ◽  
Causative Mutation ◽  
Swamp Buffalo

Abstract Visible pigmentation phenotypes can be used to explore the regulation of gene expression and the evolution of coat color patterns in animals. Here, we performed whole-genome and RNA sequencing and applied genome-wide association study, comparative population genomics and biological experiments to show that the 2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene is the causative mutation for the white coat phenotype in swamp buffalo (Bubalus bubalis). This LINE-1 insertion (3′ truncated and containing only 5′ UTR) functions as a strong proximal promoter that leads to a 10-fold increase in the transcription of ASIP in white buffalo skin. The 165 bp of 5′ UTR transcribed from the LINE-1 is spliced into the first coding exon of ASIP, resulting in a chimeric transcript. The increased expression of ASIP prevents melanocyte maturation, leading to the absence of pigment in white buffalo skin and hairs. Phylogenetic analyses indicate that the white buffalo-specific ASIP allele originated from a recent genetic transposition event in swamp buffalo. Interestingly, as a similar LINE-1 insertion has been identified in the cattle ASIP gene, we discuss the convergent mechanism of coat color evolution in the Bovini tribe.

scholarly journals Tracing the Origin of the RSPO2 Long-Hair Allele and Epistatic Interaction between FGF5 and RSPO2 in Sapsaree Dog

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 102
Author(s):  
Mingue Kang ◽  
Byeongyong Ahn ◽  
Seungyeon Youk ◽  
Yun-Mi Lee ◽  
Jong-Joo Kim ◽  
...  
Keyword(s):  
Epistatic Interaction ◽  
Genome Wide Association Study ◽  
Dominant Mode ◽  
Causative Mutation ◽  
Entire Body ◽  
Hair Length ◽  
Mendelian Segregation ◽  
Selection Signature ◽  
Genome Wide ◽  
History Of

Genetic analysis of the hair-length of Sapsaree dogs, a Korean native dog breed, showed a dominant mode of inheritance for long hair. Genome-Wide Association Study (GWAS) analysis and subsequent Mendelian segregation analysis revealed an association between OXR1, RSPO2, and PKHD1L1 on chromosome 13 (CFA13). We identified the previously reported 167 bp insertion in RSPO2 3’ untranslated region as a causative mutation for hair length variations. The analysis of 118 dog breeds and wolves revealed the selection signature on CFA13 in long-haired breeds. Haplotype analysis showed the association of only a few specific haplotypes to the breeds carrying the 167 bp insertion. The genetic diversity in the neighboring region linked to the insertion was higher in Sapsarees than in other Asian and European dog breeds carrying the same variation, suggesting an older history of its insertion in the Sapsaree genome than in that of the other breeds analyzed in this study. Our results show that the RSPO2 3’ UTR insertion is responsible for not only the furnishing phenotype but also determining the hair length of the entire body depending on the genetic background, suggesting an epistatic interaction between FGF5 and RSPO2 influencing the hair-length phenotype in dogs.

scholarly journals Genetic Analysis of Children with Dravet Syndrome in a Resourcelimited Setting

2021 ◽  
Author(s):  
Sorawit Viravan ◽  
Chutima Meesamarnpong ◽  
Wanna Thongnoppakhun ◽  
Mongkol Chanvanichtrakool
Keyword(s):  
Sanger Sequencing ◽  
Direct Sequencing ◽  
Single Gene ◽  
Gene Mutations ◽  
Large Deletion ◽  
Dravet Syndrome ◽  
Causative Mutation ◽  
Resource Limited ◽  
Therapeutic Decisions ◽  
Scn1a Gene

Objective: To identify the common causal gene mutations in Thai children with the Dravet (DS) phenotype, using single gene analysis.Material and Methods: The study was carried out on 20 DS patients at Siriraj Hospital, Bangkok, Thailand. Sanger sequencing of the Voltage-Gated Sodium Channel Alpha Subunit 1 (SCN1A) gene was conducted in all patients. In SCN1A-negative patients, multiplex ligation-dependent probe amplification of the SCN1A gene was performed in all cases; however, direct sequencing of the Protocadherin-19 (PCDH19) gene was analyzed in girls only.Results: Fourteen (70.0%) DS patients were found to carry pathogenic SCN1A mutations, with 6 novel mutations. In SCN1A-negative patients; 1 of the 4 girl patients (25.0%) had a novel PCDH19 mutation, while none of the 6 patients had a large deletion or duplication in the SCN1A gene.Conclusion: The SCN1A gene is the most common causative mutation in Thai children with DS phenotype. This study emphasizes the benefit of Sanger sequencing of the SCN1A gene in resource-limited countries to aid in making appropriate therapeutic decisions.

scholarly journals Features of coat color and markings and impact of dun factor on Vyatka horse breed

2020 ◽  
Vol 17 ◽  
pp. 00202
Author(s):  
Natalia F. Belousova ◽  
Svetlana P. Bass ◽  
Svetlana A. Zinoveva ◽  
Sergei A. Kozlov ◽  
Sergei S. Markin
Keyword(s):  
Coat Color ◽  
Horse Breed

The predominant coat colors in Vyatka horse breed are bay-brown (69.6 %) and mousey (20.8 %). Among the genotyped livestock, three genotypes of the base bay coat color (EE/AA, EE/Aa, Ee/AA) and two genotypes of the base solid blackcock (EE/a/a, Ee/aa) have been detected. The proportion of horses with Cr allele is 2.1 %. In Vyatka horse breed, three isabelline-brown horses (Cr/Cr) have been recorded and the presence of W20n allele was detected. Among the horses genotyped, 35.5 % are DD homozygous, 61.3 % are heterozygous (Dd1, Dd2), 3.2 % have the nd2/nd2 genotype. Allele d2 against the background of D does not always cause the presence of “wild” markings, unlike D/D. The influence of Dun-factor on the depigmentation area has not been detected. 39.9 % of horses have white markings (including 30 % of stallions), which are mainly facial markings (59.8 %), less often they are leg markings (21.6 %) or both facial and leg markings (18, 6 %).

Aneuploidy of sex chromosomes in a tortoiseshell cat – case report

2017 ◽  
Vol XXII (126) ◽  
pp. 40-44
Author(s):  
Maria Teresa Pereira Costa ◽  
Richard Roberto Lobo ◽  
Valquiria Santiloni ◽  
Lígia Souza Lima Silveira da Mota
Keyword(s):  
Case Report ◽  
Coat Color ◽  
Klinefelter Syndrome ◽  
Companion Animals ◽  
Color Pattern ◽  
White Hair ◽  
The Body ◽  
Black Hair ◽  
Livestock Species ◽  
History Of

Cytogenetic analysis is an important step in the diagnosis of animals with a history of infertility or sterility. While chromosomal studies have been indicated for livestock species for years, the demand for such analyzes in companion animals has recently increased. The coat color in cats known as tortoiseshell presents predominance of black hair mixed with white and orange hair all over the body and, in the color pattern known as calico, these three colors are presented as independent spots with predominance of white hair. However, all of these patterns are limited to females due to sex-linked inheritance. Male tortoiseshell or calico cats occur rarely, due to the occurrence of chromosomal aberrations. This article reports the chromosomal analysis of a male cat with tortoiseshell pelage that presented an extra X chromosome (diploid chromosome set of 2n = 39,XXY), a condition which is similar to Klinefelter syndrome in humans.

scholarly journals A Stop-Gain Mutation within MLPH Is Responsible for the Lilac Dilution Observed in Jacob Sheep

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 618 ◽  
Author(s):  
Christian J. Posbergh ◽  
Elizabeth A. Staiger ◽  
Heather J. Huson
Keyword(s):  
Autosomal Recessive ◽  
Coat Color ◽  
Color Change ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Autosomal Recessive Inheritance ◽  
Pedigree Analysis ◽  
Causative Mutation ◽  
Nonsynonymous Mutation ◽  
Original Case

A coat color dilution, called lilac, was observed within the Jacob sheep breed. This dilution results in sheep appearing gray, where black would normally occur. Pedigree analysis suggested an autosomal recessive inheritance. Whole-genome sequencing of a dilute case, a known carrier, and sixteen non-dilute sheep was used to identify the molecular variant responsible for the coat color change. Through investigation of the genes MLPH, MYO5A, and RAB27A, we discovered a nonsynonymous mutation within MLPH, which appeared to match the reported autosomal recessive nature of the lilac dilution. This mutation (NC_019458.2:g.3451931C>A) results in a premature stop codon being introduced early in the protein (NP_001139743.1:p.Glu14*), likely losing its function. Validation testing of additional lilac Jacob sheep and known carriers, unrelated to the original case, showed a complete concordance between the mutation and the dilution. This stop-gain mutation is likely the causative mutation for dilution within Jacob sheep.

scholarly journals Use of the HRM Method in Quick Identification of FecXO Mutation in Highly Prolific Olkuska Sheep

Animals ◽  
2020 ◽  
Vol 10 (5) ◽  
pp. 844
Author(s):  
Grzegorz Smołucha ◽  
Katarzyna Piórkowska ◽  
Katarzyna Ropka-Molik ◽  
Jacek Sikora
Keyword(s):  
High Resolution ◽  
Molecular Biology ◽  
Sanger Sequencing ◽  
Genetic Basis ◽  
High Resolution Melting ◽  
Sheep Breed ◽  
Causative Mutation ◽  
Sequencing Method

Olkuska is a highly prolific sheep breed in Poland. Thanks to earlier identification of the genetic basis of its prolificacy, a mutation in the BMP-15 gene, we can use molecular biology tools to identify this causative mutation affecting prolificacy. In our research, we used the High-Resolution Melting (HRM) and Sanger sequencing methods to identify the genotypes of the studied animals. The result obtained by the HRM method is identical to those obtained by the sequencing method, which confirms the effectiveness of the HRM method and the possibility of quick and cheap identification of individuals with a FecXO mutation.

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