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Background: Colored wool from cashmere goats is increasingly popular among consumers, but the transcriptomic differences between coat colors are poorly understood. Objectives: This study aimed to screen for coat color regulation-associated genes in cashmere goats to ascertain their underlying molecular mechanisms. Methods: Transcriptomic sequencing of skin tissues from black (BC), brown (YC), and white cashmere (WC) goats was performed. Immunohistochemistry and western blotting were used to validate SLC24A4 and DCT expression, two essential genes identified for coat color determination. Results: We identified 6,518 differentially expressed genes (DEGs) in the BC vs. WC group (3,919 upregulated, 2,599 downregulated). Next, 5,593 DEGs were identified in the YC vs. WC group (3,629 upregulated, 1,964 downregulated). Finally, 4,538 DEGs were expressed in both groups, with 1,980 and 1,055 DEGs exclusively expressed in either group. Functions and pathways associated with hair color were enriched, including melanosomes, melanocyte migration, melanin biosynthesis processes and functions, and melanogenesis pathways. TYRP1, SLC24A4, PMEL, OCA2, and DCT were significantly upregulated in BC goat skin, while ASIP was significantly upregulated in YC skin. Additionally, KIT, POMC, SLC24A5, Wnt3a, and EDN3 were DEGs for different coat colors. Immunohistochemistry revealed SLC24A4 and DCT expression in dermal papillae, inner and outer root sheaths, and the hair follicle matrix. Western blotting showed that SLC24A4 protein levels were highest in BC goat skin. DCT protein levels were also highest in BC goat skin, albeit not significantly. Conclusion: These results further our understanding of coat color regulation in cashmere goats, establishing a foundation for their molecular breeding. [ABSTRACT FROM AUTHOR]

Feline leishmanial infection is reported worldwide, but the epidemiological role of domestic cats in the leishmaniasis cycle remains unclear, and cats might act as cryptic reservoir hosts in endemic areas with no feline leishmaniosis cases. Considering that, a serological screening for anti-Leishmania spp. antibodies was performed by indirect immunofluorescence antibody test (IFAT) in 389 necropsied cats' serum samples from a new visceral leishmaniasis transmission area with no feline leishmanial infection reported to unveil if the cats are being exposed to the parasite. The overall seroprevalence for Leishmania spp. was 11.05% (43/389). No association was found between sex, neutering status, age group, breed, coat length, feline immunodeficiency virus (FIV) infection, and Leishmania spp. antibody detection. A positive association was found with coat color (cats within the orange spectrum with white [particolor]) (OR = 2.47, CI 95% 1 – 6.13, P = 0.044) and a negative association (OR = 0.38, CI 95% 0.18 – 0.79, P = 0.01) between feline leukemia virus (FeLV) infection and IFAT positivity for Leishmania spp. Therefore, it is concluded that the seroprevalence found was greater than 10%, indicating contact of the protozoan with cats in the region served. [ABSTRACT FROM AUTHOR]

Climate change negatively influences the productive and reproductive abilities of goats. There is a need to understand the relationship between heat stress and genes that may aid in the development of climate-resilient goats. Melanism variation in goats plays a role in thermoregulation, in which the melanogenic genes have a pleiotropic effect on the regulation of physiological responses and behavior that are altered due to heat stress in the animals. Thus, the present study was conducted to establish a possible association between the coat color gene (MC1R) and heat stress characteristics. The physiological responses and cortisol levels were recorded in forty different coat-colored goats. The genotyping of the animals revealed four SNPs at the 183rd (C/T), 332nd (C/G), 748th (G/T), and 801st (C/G) positions, among which the black and brown goat populations had novel SNPs at the 332nd position. Eight haplotypes were constructed, and an association study revealed that haplotypes (CCGG, TCGG, and CCTC) that were linked to white animals had lower cortisol values, rectal temperature, skin temperature, and respiration rate. The multivariate and cluster analyses revealed that the white goats were distinct from the rest of the goats. In addition, the docking results revealed the residues that were forming the interaction complex, which could play a role in melanogenesis in the animals and, in turn, the heat stress ability of the goats. Altogether, the results of the present study could pave the way for more research into coat color genes and their relationship with heat stress traits. [ABSTRACT FROM AUTHOR]

Tanzania has a goat population of about 24.8 million most of which belong to the Small East African breed distributed in almost all agro-ecological zones. The different goat populations and the production system in which they are raised are not well characterized depriving animal breeders useful information in designing and running improvement and conservation programs. Therefore, the study was conducted in all agro-ecological zones in Tanzania to characterize the indigenous goats and the production system in which they are raised. Data on animals were collected from 688 randomly selected adult female goats and for production system description; 220 households were interviewed. Analysis of variance and discriminant analysis were used on quantitative data, while frequency analysis was used on qualitative data. Income generation and meat production were the primary goat rearing objectives. More than 55% of respondents grazed their animals freely in communal lands where natural pasture was the chief feed resource. Mating was mainly uncontrolled with apron and castration being used by goat keepers as mating control methods. Common diseases were contagious caprine pleural pneumonia and helminthiasis. Feed shortage, prevalence of diseases, and water scarcity were the major goat production constraints. There were morphological variations between and within these goat populations, and based on quantitative data, the goats were categorized into two groups. High twinning was observed in Ujiji and Lindi goats and low for Sukuma. The dominant coat color was plain white in Pare, Gogo, Maasai, and Tanga. Other coat color patterns were mixed black and white for Sukuma, reddish-brown for Lindi, black and reddish-brown for Ujiji, and white and reddish-brown for Pwani and Maasai. High within population variation is observed which is important as it can be used as a basis for genetic improvement through selection. [ABSTRACT FROM AUTHOR]

c-KIT, a type III receptor protein tyrosine kinase, plays an essential role in melanocyte development, migration, and survival. Mutations within the c-KIT gene are previously shown to cause the white coat color phenotypes in pigs, mice, goats, and humans. However, up so far, the splicing isoform(s), genomic architecture of c-KIT have not been characterized well in merino sheep. Reverse transcriptase (RT)-PCR analysis with molecular prediction identified two basic splice variants: Transcript Variant-1, 2 for 12 bp insertion coding sequences (CDS) corresponding to the four amino acids 'GNSK', respectively. Using 5′ RACE, here we report for the first time a novel c-KIT 'Transcript Variant-3' from the skin of merino sheep by comparative genome analyses at exon(1)-intron(1)-exon(2) boundaries. In contrast, a single product of 795 bp was characterized by 3' RACE. We also demonstrated that the c-KIT gene expression at the transcript level is not mediated via an intron-9 splicing event. Overall, beyond what was observed in other mammals, our data provide novel insights into the molecular structure of the c-KIT gene in sheep. [ABSTRACT FROM AUTHOR]

Background: Melanocortin-1-receptor gene (MC1R) plays a significant role in signaling cascade of melanin production. In cattle, the coat colors, such as red and black, are an outcome of eumelanin and pheomelanin pigments, respectively. The coat colors have become critical factors in the animal selection process. This study is therefore aimed at the molecular characterization of reddish-brown coat-colored Sahiwal cattle in comparison to the black and white-colored Karan Fries. Results: The Sequence length of the MC1R gene was 954 base pairs in Sahiwal cattle. The sequences were examined and submitted to GenBank Acc.No. MG373575 to MG373605. Alignment of both (Sahiwal and Karan Fries) protein sequences by applying ClustalO multiple sequence alignment programs revealed 99.8–96.8% sequence similarity within the bovine. MC1R gene phylogenetic studies were analyzed by MEGA X. The gene MC1R tree, protein confines, and hereditary difference of cattle were derived from Ensemble Asia Cow Genome Browser 97. One unique single-nucleotide polymorphism (c.844C>A) (SNP) was distinguished. Single amino acid changes were detected in the seventh transmembrane structural helix region, with SNP at p.281 T>N of MC1R gene in Karan Fries cattle. Conclusions: In this current research, we first distinguished the genomic sequence of the MC1R gene regions that showed evidence of coat variation between Indian indigenous Sahiwal cattle breed correlated with crossbreed Karan Fries. These variations were found in the Melanocortin 1 receptor coding regions of the diverse SNPs. The conclusions of this research provide new insights into understanding the coat color variation in crossbreed compared to the Indian Sahiwal cattle. [ABSTRACT FROM AUTHOR]

In the traditional Menz sheep breeding, communities select against black coat color and therefore its frequency is declining over time. We hypothesize that this exercise is causing the loss of an important gene pool. Data collected from on-station Menz sheep nucleus (n = 1992) and community-based breeding program (CBBP) (n = 5578) were analyzed to (1) assess color proportion dynamics over years and (2) associate phenotypic performances and estimated breeding values (EBVs) for growth traits with coat color of the animals. The on-station nucleus considered growth trait as selection criteria, while CBBP focused on a combination of growth and morphological characters. The results showed that the proportion of black coat color increased across years in the on-station nucleus flock (2.1% per year). However, in the CBBP, flocks' proportion of black coat color declined over time (1.03–1.05% per year). Birth and growth traits of black-colored sheep were consistently superior (P < 0.05) to white-colored sheep. Mean yearling weight and EBV of black rams used in the on-station flock was 24.3 kg and 3.7 kg, respectively, while the values for white-colored sheep were 19.7 kg and 1.6 kg, respectively. This variation in growth performances of Menz sheep among different colors may be due to the linkage between color and growth performance genes. Thus, selection against black coat color in the CBBPs seems to have an adverse effect on the genetic progress of growth traits in the Menz sheep. Understanding the core reasons behind the prevailing selection against black coat color and devising measures to address them should be considered. Developing a black line targeting specific markets might also be worthy to maximize production as well as maintain qualities associated with black color. [ABSTRACT FROM AUTHOR]

This study performed a comprehensive expression profiling of genes expressed in the skin of goats with three different coat colors by Illumina Sequencing. A total of 91 significantly expressed genes were detected when comparing gray skin to white skin library and these included 74 up-regulated and 17 down-regulated genes in gray skin. There were 67 differentially expressed genes between brown skin and white skin libraries, 23 of which were up-regulated and 44 were down-regulated in brown skin. When we compared brown and gray libraries, 154 differentially expressed genes were found, of which 33 showed higher expression and 121 showed lower expression in brown skin. To our surprise, MC1R, MITF, TYR and KIT showed no significant difference in expression between the goats with three skin colors, whereas ASIP was detected in white skin but not in dark skins. In this study, PMEL, TRPM1, TYRP1 and DCT were significantly up-regulated in brown goat skin compare with gray and white skins. PMEL showed higher expression in gray goat skin compared with white goat skin, whereas there were no significant differences in the expression of TYRP1, TRPM1 and DCT between gray and white skin samples. In addition, ELOVL3 showed higher expression in gray goat skin than in brown and white skins, whereas there was no significant differences in the expression of ELOVL3 between brown and white skin samples. These results expand our understanding of the complex molecular mechanisms of skin physiology and melanogenesis in goat and provide a foundation for future studies. [ABSTRACT FROM AUTHOR]

The one of the key pigment genes, the melanocortin 1 receptor ( MC1R) gene, plays a fundamental role in the determination of coat color in a variety of mammals. However, so far there has been no report regarding the genetic variants of the MC1R promoter region and the potential association of its mutations with coat color in foxes. This work aimed to characterize 5'-flanking region of the MC1R gene and its mutations associated with coat color variations in foxes. A total of 76 individuals including 64 red foxes ( Vulpes vulpes), representing 11 color morphs, and 12 arctic foxes ( Vulpes lagopus), representing 2 color morphs were studied. To explore the potential cause of coat color variation in foxes, an 1105 bp region located upstream of the MC1R gene coding region was sequenced in 76 foxes. In the present study, a 1267 bp 5'-flanking region of fox MC1R gene was obtained using a PCR-mediated chromosome-walking technique and a 1105 bp segment was sequenced. A total of 8 novel SNPs and an insertion/deletion of 4 nucleotides were detected. The results of mutations analysis indicated that SNPs g.-52G>A, g.-266A>G, g.-297T>C, g.-300G>A and the insertion/deletion spaning positions g.-382~-379 were important in distinguishing V. vulpes and V. lagopus. This work, for the first time, described and confirmed the different variants existed in the 5'-flanking region of MC1R gene between red foxes and arctic foxes. These findings may be extremely helpful for further exploring the alternative splicings or promoter activity of MC1R gene for different coat-colored foxes. [ABSTRACT FROM AUTHOR]

The Pax3 protein is a transcription factor responsible for process of differentiation neural crest stem cells during the embryonic period, in individual life Pax3 gene expression is an element of skin cells response to ultraviolet radiation (UV). Mutations of Pax3 gene are possible cause of some color patterns Quarter Horse breed, additionally some variations of Pax3 gene can disturb the process of embryonic or fetal development. Endothelin Receptor Type B (EDNRB) is another candidate gene that can affect on the distribution of the dye in skin or hairs, exons 1, 3, 4 and 5 were sequenced, any nucleotide variations were not observed. Exons 2 and 3 of the Pax3 gene along with the flanking regions were sequenced, in which a few variations were found, some of them were genotyped by means of PCR-RFLP and ASA-PCR. Statistically significant differences between the frequency of examined alleles in the various coat color groups were observed. [ABSTRACT FROM AUTHOR]

The expression product of the Pax3 gene is a transcription factor involved in the process of neural crest's stem cell differentiation into melanocytes during embryonic development. In individual life, the Pax3 gene expression is an element of the complex process of regulation the degree of melanoblasts differentiation. The state of melanoblasts (being a reservoir of renewable cells) differentiation depends on UV radiation, which stimulates the Pax3 gene expression. In the absence of radiation the expression of the Pax3 gene is inhibited, what stops the melanoblasts at the current level of diversity. Pax3 gene is one of the candidate genes responsible for animals coat color and its mutations are considered a possible cause for the occurrence of the color patterns: "splashed white" and "white spotting" in Quarter Horse breed. The 5'UTR exon 1 and the intron fragment 1 of the Pax3 gene in the American mink were sequenced. Two variations were found: substitution c.-17G>A in the 5′ UTR and substitution c.+142C>G in intron 1. Investigations were carried out on 93 individuals, which were genotyped for polymorphisms in the 5'UTR region using the MTPA-PCR technique. It was established that the study group was in a state of genetic equilibrium, because there were no statistically significant differences between observed genotypes frequency and theoretically calculated according to the Hardy–Weinberg principle and it was found that there were no statistically significant relationship between the Pax3 gene polymorphism and the American mink coat color. [ABSTRACT FROM AUTHOR]

Light-dark coat color variation is a common aspect of color diversity within and across mammalian taxa. This variation in pelage brightness is associated with aspects of evolutionary ecology, particularly for primates, but little is known about the genetic mechanisms underlying light-dark differences in pelage pigmentation. Previous work, focusing particularly on macaques (Genus Macaca), has found no clear relationship between color variation and coding sequences of key pigmentation genes. This suggests that other loci and/or gene regulatory differences underlie this variation and raises the question of how patterns of gene expression differ in light verses dark hair follicles. Here, we examine relative expression levels of pigmentation genes in hair follicles from free-ranging rhesus macaques ( Macaca mulatta) showing stark light-dark coat color variation. We quantified the brightness (reflectance) of plucked hair tufts using a spectrophotometer. We extracted RNA from the follicles and used quantitative RT-PCR to measure the relative amounts of gene product (mRNA) for seven candidate pigmentation genes ( MITF, MC1R, MGRN1, ATRN, SLC24A5, TYRP1, and DCT). Expression values were normalized with the house-keeping gene ACTB. All candidate genes were expressed at similar levels in dark, intermediate, and light hair, and thus, light-dark variation in macaque coat color is unlikely to be due to differences in the expression of these key pigmentation genes. This study represents the first examination of gene expression and natural color variation in a non-human primate population. Our results indicate that even in a system, like pigmentation, where a candidate-gene approach is promising, identifying important intra-specific gene regulatory differences remains challenging. [ABSTRACT FROM AUTHOR]

The agouti-signaling protein ( ASIP) plays a major role in mammalian pigmentation as an antagonist to melanocortin-1 receptor gene to stimulate pheomelanin synthesis, a major pigment conferring mammalian coat color. We sequenced a 352 bp fragment of ASIP gene spanning part of exon 2 and part of intron 2 in 215 animals representing six goat breeds from Nigeria and the United States: West African Dwarf, predominantly black; Red Sokoto, mostly red; and Sahel, mostly white from Nigeria; black and white Alpine, brown and white Spanish and white Saanen from the US. Twenty haplotypes from nine mutations representing three intronic, one silent and five missense (p.S19R, p.N35K, p.L36V, p.M42L and p.L45W) mutations were identified in Nigerian goats. Approximately 89 % of Nigerian goats carry haplotype 1 (TGCCATCCG) which seems to be the wild type configuration of mutations in this region of the gene. Although we found no association between these polymorphisms in the ASIP gene and coat color in Nigerian goats, in-silico functional analysis predicts putative deleterious functional impact of the p.L45W mutation on the basic amino-terminal domain of ASIP. In the American goats, two intronic mutations, g.293G> A and g.327C> A, were identified in the Alpine breed, although the g.293G> A mutation is common to American and Nigerian goat populations. All Sannen and Sahel goats in this study belong to haplotypes 1 of both populations which seem to be the wild-type composite ASIP haplotype. Overall, there was no clear association of this portion of the ASIP gene interrogated in this study with coat color variation. Therefore, additional genomic analyses of promoter sequence, the entire coding and non-coding regions of the ASIP gene will be required to obtain a definite conclusion. [ABSTRACT FROM AUTHOR]

Tyrosinase is the key regulatory enzyme of melanogenesis and plays a major role in mammal coat color. For the first time, we have sequenced and characterized the tyrosinase (TYR) of Jining Gray Goat ( Capra hircus), which is the world-famous fur-bearing animal with its special color and pattern. The full-length cDNA was cloned by a reverse-transcription polymerase chain reaction (RT-PCR) and rapid amplification of cDNA end (RACE) method. As a result, one 2131-bp nucleotide sequence representing the full-length cDNA of TYR was obtained. The entire open reading frame (ORF) of the TYR is 1593 bp and encodes for 530 amino acids, which is well conserved compared with TYR of various species with higher degree of sequence similarity with other mammalian (74-99 %) than amphibian, aves, and fishes (56-73 %). The deduced amino acids contained one signal peptide, one transmembrane domain, five N-linked glycosylation sites, and two copper binding sites. The result of real-time quantitative PCR showed that the expression level of TYR was the highest in the dark-gray goats and the lowest in the light-gray ones, while the goats of dark-gray individuals have more than 50 % black fiber and light-gray ones less than 30 %. During the whole life of Jining gray goat, TYR expression level changes with certain regularity and their coat color will change correspondingly by investigating the expression level in ten development stages. After comparing the result and the coat phenotype, we presume that it seems to have a positive relationship between the color depth of coat and the expression level of TYR. [ABSTRACT FROM AUTHOR]

gouti signaling protein (ASIP) is one of the key players in the modulation of hair pigmentation in mammals. Binding to the melanocortin 1 receptor, ASIP induces the synthesis of phaeomelanin, associated with reddish brown, red, tan, and yellow coats. We have sequenced 2.8 kb of the goat ASIP gene in 48 individuals and identified two missense (Cys126Gly and Val128Gly) and two intronic polymorphisms. In silico analysis revealed that the Cys126Gly substitution may cause a structural change by disrupting a highly conserved disulfide bond. We studied its segregation in 12 Spanish and Italian goat breeds ( N = 360) with different pigmentation patterns and found striking differences in the frequency of the putative loss-of-function Gly allele (Italian 0.43, Spanish Peninsular 0.08), but we did not observe a clear association with coat color. This suggests that the frequency of this putative loss-of-function allele has evolved under the influence of demographic rather than selection factors in goats from these two geographical areas. [ABSTRACT FROM AUTHOR]

Agouti is a common pigmentation phenotype in mammals including primates. Mutations in the agouti signaling protein gene ( ASIP) are known to result in non-agouti black hairs in laboratory mice. It is still unclear whether sequence variation in ASIP is linked with the agouti/non-agouti phenotypes in macaques (Genus Macaca). To address this issue, we have determined and compared nucleotide sequences of protein coding region of ASIP in 18 macaque species and have identified 16 different sequences of the ASIP. Macaca nemestrina, which showed yellow agouti hairs, shared an identical amino acid sequence of ASIP with several non-agouti species. No sequence changes were found in functionally important sites of ASIP in the macaques showing non-agouti dark hair color. These results indicated that the variation in the protein coding region of ASIP did not explain the non-agouti dark coat color in the macaques. Upstream regulatory regions of ASIP and other genes participating in pigmentation system remain to be investigated for the hair color variation in the macaques. [ABSTRACT FROM AUTHOR]

Melanocortin-1 receptor (MC1R) plays a major role in pigmentation in many species. To investigate if the MC1R gene is associated with coat color in water buffalo, the coding region of MC1R gene of 216 buffalo samples was sequenced, which included 49 black river buffalo (Murrah and Nili-Ravi), 136 swamp buffalo (Dehong, Diandongnan, Dechang, Guizhou, and Xilin) with white and gray body, and 31 hybrid offspring of river buffalo Nili-Ravi (or Murrah) and swamp buffalo. Among the three variation sites found, SNP684 was synonymous, while SNP310 and SNP384 were nonsynonymous, leading to p.S104G and p.I128M changes, respectively. Only Individuals carrying homozygote EBR/EBR were black. The genotype and phenotype analysis of the hybrid offspring of black river buffalo and gray swamp buffalo further revealed that the river buffalo type allele EBR or the allele carrying the amino acid p.104S was important for the full function of MC1R. The in silico functional analysis showed that the amino acid substitutions p.G104S and p.M128I had significant impact on the function of MC1R. Above results indicate that the allele EBR or the allele carrying the amino acid p.104S was associated with the black coat color in buffalo. [ABSTRACT FROM AUTHOR]

The Agouti gene plays an important role in pigment synthesis in domestic animals. A transversion of 423G>T recognized by BanII was found after a fragment (178 bp) of the goat Agouti gene exon 4 was amplified and sequenced. To investigate its genetic effect and diversity, 677 individuals from 12 indigenous Chinese goat breeds and one imported goat breed from South Africa (Boer goat) were analyzed by PCR-RFLP. Two alleles, T and G, and three genotypes, TT, TG, and GG, were detected. Allele T had a higher frequency in most goat breeds and, combined with the coat color phenotype, is believed to be responsible for the black phenotype or to be linked with the causative site in the goat. The results also indicate that the 423G>T transversion showed lower genetic diversity in goat breeds with black coat color in China. Genetic differentiation among the 13 goat populations was 0.2023. The clustering of populations based on the 423G>T site was basically consistent with the variation of coat color. [ABSTRACT FROM AUTHOR]

Melanocortin receptor 1 ( MC1R) gene, one of the important candidate genes for coat color trait, was used to analyze the single nucleotide polymorphism (SNP) in Chinese native pig breeds by PCR-single strand conformation polymorphism (PCR-SSCP). The study had also taken 3 imported pig breeds as control. The results showed that the three mutations G284A, T309C and T364C found in Chinese native pigs were consistent to the mutation found in the European Large Black individuals. However, 68CC or C492T and G728A were only found in the imported individuals, which were obviously different from the Chinese native pigs. Accordingly, we presumed that the coat colors of Chinese native pigs belonged to dominant black color system, which was completely distinct to that of imported pig breeds. Thus it was implied that MC1R gene was not the principal factor affecting the coat color differences of Chinese native pig breeds, but could be used to trace the molecular evolution of pig breeds. [ABSTRACT FROM AUTHOR]

An attempt at population analysis of sables in the Ural–Ob region of the species range was made with the use of vast biological material (craniometry, 1909 specimens; ecological structure, 2157 specimens; and coat color, 439 169 pelts). Population groups in the region were mainly described on the basis of morphological, geographic, historical, and ecological criteria. Seven spatially separated population groups were found, which were named after the main rivers of their habitats: the Tavda–Konda–Sos'va, Dem'yanka, Salym–Yugan, Agan–Vakh, Kazym–Nazym, Nadym–Kunovat, and Pur–Taz groups. They distinctly differed from one another with respect to cranial measurements, coat color, and some structural demographic parameters. In some cases, morphological differences reached the subspecies level. The data obtained make it possible to revise the pattern of geographic variation within the species range. [ABSTRACT FROM AUTHOR]