• Title/Summary/Keyword: TYR gene

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Mutations of TYR and MITF Genes are Associated with Plumage Colour Phenotypes in Geese

  • Wang, Ye;Li, Si-Ming;Huang, Jing;Chen, Shi-Yi;Liu, Yi-Ping
    • Asian-Australasian Journal of Animal Sciences
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    • v.27 no.6
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    • pp.778-783
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    • 2014
  • The polymorphism of microphthalmia-associated transcription factor (MITF) and tyrosinase (TYR) genes have been proposed to play a vital role in coat colour genesis in mammals, but their role remains ambiguous in geese at best. Here, we cloned and sequenced 1,397 bp coding region of MITF gene and a 588 bp fragment of TYR exon 1 for polymorphism analysis among 157 domestic geese showing three types of plumage colour. We detected a total of three SNPs (c.280T>C, c.345G>A, and c.369G>A) in TYR and six haplotypes (H1-H6). Among them, haplotypes H1, H2, H3, and H5 were significantly associated with white plumage trait of Zhedong White Geese. However, only diplotype H1H1 and H3H5 were significantly associated with white plumage trait of Zhedong White Geese (p<0.01). We only detected one SNP (c.1109C>T) for MITF gene and found that genotype CT and TT were significantly associated with white plumage trait of Zhedong White Geese. Briefly, our study suggested an association between polymorphisms of TYR and MITF genes and the plumage colour trait in domestic geese.

Association of Tyrosinase (TYR) and Tyrosinase-related Protein 1 (TYRP1) with Melanic Plumage Color in Korean Quails (Coturnix coturnix)

  • Xu, Ying;Zhang, Xiao-Hui;Pang, You-Zhi
    • Asian-Australasian Journal of Animal Sciences
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    • v.26 no.11
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    • pp.1518-1522
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    • 2013
  • TYR (Tyrosinase) and TYRP1 (Tyrosinase-related protein 1) play crucial roles in determining the coat color of birds. In this paper, we aimed to characterize the relationship of TYR and TYRP1 genes with plumage colors in Korean quails. The SNPs were searched by cDNA sequencing and PCR-SSCP in three plumage color Korean quails (maroon, white and black plumage). Two SNPs ($367T{\rightarrow}C$ and $1153C{\rightarrow}T$) were found in the coding region of TYRP1 gene, but had no significant association with plumage phenotype in Korean quails. The expression of TYR was higher in black plumage quails than that in maroon plumage quails. In contrast, the expression of TYRP1 was lower in black plumage quails than that in maroon plumage quails. This study suggested that the melanic plumage color in Korean quails may be associated with either increased production of TYR or decreased production of TYRP1.

Investigation of TYR and MC1R polymorphisms in Korean native chickens and the commercial chickens (토종닭과 실용계에서 TYR 및 MC1R 유전자의 변이 분석)

  • Heo, Kang-Nyeong;Choo, Hyo-Jun;Seo, Bo-Young;Park, Mi-Na;Jung, Kie-Chul;Hwang, Bo-Jong;Kim, Hak-Kyu;Hong, Eui-Chul;Seo, Ok-Suk;Kang, Bo-Seok
    • Korean Journal of Agricultural Science
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    • v.38 no.3
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    • pp.465-471
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    • 2011
  • The commercial Korean native chickens (WR_CC) was developed by crossing a few native chicken breeds in Korea. In order to investigate the breed identification markers, SNPs from TYR gene and MC1R gene, which are associated with skin and feather colors respectively, were initially identified. In case of 3 identified SNPs in the TYR gene, yellow shank color was identified in Loss, Harvard, AA, RIR and CC, which have the fixed SNPs in most of the animals. On the other hand, SNP variations were observed in KNC_RB, C_B, WR_CC and HH_CC, which have the black, yellow and mixed color with black and yellow shank colors. Also, the investigation of 3 SNPs in the MC1R gene indicated that there were associations between shank and feather colors in RIR, SF, KNC_B, C_B and RIR. However, these results are not consistent among breeds. These SNP type inconsistencies within breeds suggested that the selection was performed based on the phenotypes, which is not include the genotype information. Thus, selection based on genetic information is required in the future.

A retroviral insertion in the tyrosinase (TYR) gene is associated with the recessive white plumage color in the Yeonsan Ogye chicken

  • Cho, Eunjin;Kim, Minjun;Manjula, Prabuddha;Cho, Sung Hyun;Seo, Dongwon;Lee, Seung-Sook;Lee, Jun Heon
    • Journal of Animal Science and Technology
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    • v.63 no.4
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    • pp.751-758
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    • 2021
  • The recessive white (locus c) phenotype observed in chickens is associated with three alleles (recessive white c, albino ca, and red-eyed white cre) and causative mutations in the tyrosinase (TYR) gene. The recessive white mutation (c) inhibits the transcription of TYR exon 5 due to a retroviral sequence insertion in intron 4. In this study, we genotyped and sequenced the insertion in TYR intron 4 to identify the mutation causing the unusual white plumage of Yeonsan Ogye chickens, which normally have black plumage. The white chickens had a homozygous recessive white genotype that matched the sequence of the recessive white type, and the inserted sequence exhibited 98% identity with the avian leukosis virus ev-1 sequence. In comparison, brindle and normal chickens had the homozygous color genotype, and their sequences were the same as the wild-type sequence, indicating that this phenotype is derived from other mutation(s). In conclusion, white chickens have a recessive white mutation allele. Since the size of the sample used in this study was limited, further research through securing additional samples to perform validation studies is necessary. Therefore, after validation studies, a selection system for conserving the phenotypic characteristics and genetic diversity of the population could be established if additional studies to elucidate specific phenotype-related genes in Yeonsan Ogye are performed.

Genetic Variations of Chicken TYR Gene and Associations with Feather Color of Korean Native Chicken (KNC) (한국 토종닭 모색 변이와 TYR 유전자형 간의 상관관계 분석)

  • Choi, Jin Ae;Lee, Jun-Heon;Jang, Hyun-Jun;Lee, Kyung-Tai;Kim, Tae-Hun;Lee, Hyun-Jeong;Heo, Kang-Nyeong;Kim, Chong-Dae;Han, Jae-Yong;Park, Mi Na
    • Korean Journal of Poultry Science
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    • v.41 no.1
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    • pp.7-14
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    • 2014
  • Tyrosinase (TYR) gene is located on chromosome 1 in chicken and it is composed of five exons and four introns. TYR gene is described as a key enzyme in melanin biosynthesis. Most examples of complete albinism in chicken have been due to defects in the tyrosinase gene. The association of feather color and sequence polymorphism in the Tyrosinase (TYR) gene was investigated using Korean Native chicken H breed (H_PL), Korean Native chicken L/W breed(L/W_PL) and 'Woorimatdag' commercial chickens (Woorimatdag_CC). From L_PL and W_PL breed analyses, 4 synonymous SNPs (locus G33A, G116A, C217T and C247T) and 2 SNPs (G838A and G958A) were detected in 4th exon and 4th intron of TYR gene respectively. The genotype frequencies for 6 SNPs were compared between L_PL and W_PL and W_PL represented homozygous SNP types in all the analyzed SNP positions while L_PL displayed various SNP types.

Biosynthesis of 3-Hydroxy-5-Methyl-O-Methyltyrosine in the Saframycin/Safracin Biosynthetic Pathway

  • Fu, Cheng-Yu;Tang, Man-Cheng;Peng, Chao;Li, Lei;He, Yan-Ling;Liu, Wen;Tang, Gong-Li
    • Journal of Microbiology and Biotechnology
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    • v.19 no.5
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    • pp.439-446
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    • 2009
  • The biosynthesis study of antibiotics saframycin (SFM) in Streptomyces lavendulae and safracin (SAC) in Pseudomonas fluorescens demonstrated that 3-hydroxy-S-methyl-O-methyltyrosine (3hSmOmTyr), a nonproteinogenic amino acid, is the precursor of the tetrahydroisoquinoline molecular core. In the biosynthetic gene cluster of SAC/SFM, sacD/sfmD encodes a protein with high homology to each other but no sequence similarity to other known enzymes; sacF/sfmM2 and sacG/sfmM3 encode methyltransferases for C-methylation and O-methylation; and sacE/sfinF encodes a small protein with significant sequence similarity to the MbtH-like proteins, which are frequently found in the biosynthetic pathways of non ribosomal peptide antibiotics and siderophores. To address their function, the biosynthetic cassette of 3h5mOmTyr was heterologously expressed in S. coelicolor and P. putida, and an in-frame deletion and complementation in trans were carried out. The results revealed that (i) SfmD catalyzes the hydroxylation of aromatic rings; (ii) sacD/sacF/sacG in the SAC gene cluster and sfmD/sfmM2/sfmM3 in the SFM cluster are sufficient for the biosynthesis of 3h5mOmTyr; and (iii) the mbtH-like gene is not required for the biosynthesis of the 3h5mOmTyr precursor.

Comparative Analysis of Nucleotide Sequence and Codon Usage of Arylphorin Gene Cloned from Four Silk-Producing Insects and Their Molicular Phylogenetics

  • Lee, Sang-Mong;Hwang, Jae-Sam;Lee, Jin-Sung;Goo, Tae-Won;Kwon, O-Yu;Kim, Ho-Rak
    • Journal of Life Science
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    • v.9 no.1
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    • pp.84-89
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    • 1999
  • To determine phylogenetic relatedness of four silk-producing silkmoths (B. mori, B. mandarina, A. yamamai and A. pernyi), internal coding region of arylphorin which is a storage protein in hemolymph protein of insects were amplified by polymerase chain reaction and then sequenced and compared each other. The nucleotide composition was biased toward adenine and thymine(59% A+T) and a strong bias for use of C in the third position of codons was found for Phe and Tyr. Together TTC(Phe) and TAC(Tyr) account for about 16.8% (10 for TTC and 8 for TAC) of all codon usage. The nucleotide similarity of arylphorin gene from B. mori showed 99%, 98% and 97% homology with those of B. mandarina, A. yamamai and A. pernyi, respectively. Also, the nucleotide sequence of arylphorin gene from B. mandarina showed 98% and 97% homology with those of A. yamamai and A.pernyi, respectively. Between A. yamamai and A. pernyi, the sequence homology was 97%. The deduced amino acid sequences in B. mori, B. mandarina and A. yamamai showed almost 99% homology. Although the aryphorin gene provided insufficient variability among the four insect species, A UPGMA tree is generated that supported the monophyly of silk-producing insects, with M. sexta placed basal to it. It is suggest that silk-producing insects have a close relationship and a homogeneous genetic background from comparison with those of other insects.

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Cloning and Nucleotide Sequence of a cDNA Encoding the Rat Triosephosphate Isomerase

  • Lee, Kyunglim;Ryu, Jiwon
    • Archives of Pharmacal Research
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    • v.19 no.6
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    • pp.497-501
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    • 1996
  • A gene coding for triosephosphate isomerase (TPI) from a rat skeletal muscle cDNA library was cloned and its nucleotide sequence was determined. The 1, 348-bp cDNA clone contains 24 bp $5^I$ noncoding region, the entire 750 bp coding region corresponding to a protein of 249 amino acids, $547bp 3^I$ noncoding region and part of a poly(A) tail. It also contains a polyadenylation signal, AATAAA, starting from 17 bp upstream of the poly(A) tail. The calculated molecular weight of rat TPI is 27.8 kDa and the net charge is +4. The deduced amino acid sequence from rat TPI CDNA sequence has 93% and 94% homology with that of mouse and human clones, respectively. The amino acids at the residue of Asn12, Lys14, His96, Glu 166, His96, His101, Ala177, Tyr165, Glu13O, Tyr2O9, and Ser212 in catalytic site are completely identical, confirming that the functional residues in TPI proteins are highly conserved throughout evolution. The most profound characteristic of rat TPI enzyme, compared with other TPIs, is that there are five cysteine substitutions at the residue of 21, 27, 159, 195 and 204. A Glu123 instead of Gly was found in rabbit, rhesus, mouse and human sequences. Through the method of RT-PCR, the mRNA transcription level of TPI gene was found to be different among various tissues and was highest in muscle.

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Expression of Coat Color Associated Genes in Korean Brindle Cattle by Microarray Analysis

  • Lee, Hae-Lee;Park, Jae-Hee;Kim, Jong Gug
    • Journal of Embryo Transfer
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    • v.30 no.2
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    • pp.99-107
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    • 2015
  • The aim of the present study was to identify coat color associated genes that are differentially expressed in mature Korean brindle cattle (KBC) with different coat colors and in Hanwoo cows. KBC calves, before and after coat color appearance, were included. Total cellular RNA was isolated from the tail hair cells and used for microarray. The number of expressed coat color associated genes/probes was 5813 in mature KBC and Hanwoo cows. Among the expressed coat color associated genes/probes, 167 genes were the coat color associated genes listed in the Gene card database and 125 genes were the pigment and melanocyte genes listed in the Gene ontology_bovine database. There were 23 genes/probes commonly listed in both databases and their expressions were further studied. Out of the 23 genes/probes, MLPH, PMEL, TYR and TYRP1 genes were expressed at least two fold higher (p<0.01) levels in KBC with brindle color than either Hanwoo or KBC with brown color. TYRP1 expression was 22.96 or 19.89 fold higher (p<0.01) in KBC with brindle color than either Hanwoo or KBC with brown color, respectively, which was the biggest fold difference. The hierarchical clustering analysis indicated that MLPH, PMEL, TYR and TYRP1 were the highly expressed genes in mature cattle. There were only a few genes differentially expressed after coat color appearance in KBC calves. Studies on the regulation and mechanism of gene expression of highly expressed genes would be next steps to better understand coat color determination and to improve brindle coat color appearance in KBC.

Allelic variation of melanocortin-1 receptor locus in Saudi indigenous sheep exhibiting different color coats

  • Mahmoud, Ahmed H.;Mashaly, Ashraf M.;Rady, Ahmed M.;Al-Anazi, Khalid M.;Saleh, Amgad A.
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.2
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    • pp.154-159
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    • 2017
  • Objective: This study was designed to characterize the DNA polymorphisms of the melanocortin-1 receptor (MC1R) gene in indigenous Saudi Arabian sheep breeds exhibiting different color coats, along with individuals of the Sawaknee breed, an exotic sheep imported from Sudan. Methods: The complete coding region of MC1R gene including parts of 3' and 5' untranslated regions was amplified and sequenced from three the indigenous Saudi sheep; Najdi (generally black, n = 41), Naeimi (generally white with brown faces, n = 36) and Herri (generally white, n = 18), in addition to 13 Sawaknee sheep. Results: Five single nucleotide polymorphisms (SNPs) were detected in the MC1R gene: two led to nonsynonymous mutations (c.218 T>A, p.73 Met>Lys and c.361 G>A, p.121 Asp>Asn) and three led to synonymous mutations (c.429 C>T, p.143 Tyr>Tyr; c.600 T>G, p.200 Leu>Leu, and c.735 C>T, p.245 Ile>Ile). Based on these five SNPs, eight haplotypes representing MC1R $E^d$ and $E^+$ alleles were identified among the studied sheep breeds. The most common haplotype (H3) of the dominant $E^d$ allele was associated with either black or brown coat color in Najdi and Sawaknee sheep, respectively. Two other haplotypes (H6 and H7) of $E^d$ allele, with only the nonsynonymous mutation A218T, were detected for the first time in Saudi indigenous sheep. Conclusion: In addition to investigating the MC1R allelic variation in Saudi indigenous sheep populations, the present study supports the assumption that the two independent nonsynonymous Met73Lys and Asp121Asn mutations in MC1R gene are associated with black or red coat colors in sheep breeds.