The alpaca agouti gene: Genomic locus, transcripts and causative mutations of eumelanic and pheomelanic coat color

Chandramohan, Bathrachalam; Renieri, Carlo; Manna, Vincenzo; Terza, Antonietta La

doi:10.1016/j.gene.2013.03.060

Cited by 41 publications

(53 citation statements)

References 44 publications

(70 reference statements)

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“…Alpacas were from the ILPA-Puno, Quimsachata Experimental Station, Instituto Nacional de Innovacion Agraria (INIA), Peru, which is located at 4300 m.a.s.l. The alpacas analyzed in the present study were part of a previous phenotypic segregation study on coat color inheritance [ 20 ]; these animals were also used for the molecular characterization of the agouti gene [ 21 ].…”

Section: Methodsmentioning

confidence: 99%

The Alpaca Melanocortin 1 Receptor: Gene Mutations, Transcripts, and Relative Levels of Expression in Ventral Skin Biopsies

Chandramohan

Renieri

Manna

et al. 2015

The Scientific World Journal

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The objectives of the present study were to characterize the MC1R gene, its transcripts and the single nucleotide polymorphisms (SNPs) associated with coat color in alpaca. Full length cDNA amplification revealed the presence of two transcripts, named as F1 and F2, differing only in the length of their 5′-terminal untranslated region (UTR) sequences and presenting a color specific expression. Whereas the F1 transcript was common to white and colored (black and brown) alpaca phenotypes, the shorter F2 transcript was specific to white alpaca. Further sequencing of the MC1R gene in white and colored alpaca identified a total of twelve SNPs; among those nine (four silent mutations (c.126C>A, c.354T>C, c.618G>A, and c.933G>A); five missense mutations (c.82A>G, c.92C>T, c.259A>G, c.376A>G, and c.901C>T)) were observed in coding region and three in the 3′UTR. A 4 bp deletion (c.224 227del) was also identified in the coding region. Molecular segregation analysis uncovered that the combinatory mutations in the MC1R locus could cause eumelanin and pheomelanin synthesis in alpaca. Overall, our data refine what is known about the MC1R gene and provides additional information on its role in alpaca pigmentation.

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Section: Methodsmentioning

confidence: 99%

The Alpaca Melanocortin 1 Receptor: Gene Mutations, Transcripts, and Relative Levels of Expression in Ventral Skin Biopsies

Chandramohan

Renieri

Manna

et al. 2015

The Scientific World Journal

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“…), sheep (Norris & Whan ) and alpaca (Chandramohan et al . ). Our laboratory has recently sequenced the coding region of ASIP in llamas, but no mutations were found to be associated with the white phenotype (Daverio et al .…”

Section: Discussionmentioning

confidence: 97%

Characterization and expression analysis of KIT and MITF‐M genes in llamas and their relation to white coat color

et al. 2019

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The llama (Lama glama) is a fiber-producing species that presents a wide range of coat colors, among which white is one of the most important for the textile industry. However, there is little information about the molecular mechanisms that control the white phenotype in this species. In domestic mammals, a white coat is usually produced by mutations in the KIT proto-oncogene receptor tyrosine kinase (KIT) and microphthalmia-associated transcription factor (MITF) genes. In this work we have sequenced and described the coding regions of KIT and MITF-M, the melanocyte-specific isoform, and the two transcriptional variants MITF-M(À) and MITF-M(+). Moreover, we studied the expression of these genes in the skin of white and colored llamas. Although no variants were revealed to be associated with white coat color, significant differences between phenotypes were observed in the expression levels of KIT and MITF-M. Interestingly, white llamas expressed less MITF-M(+) than did colored ones, which is consistent with a consequent reduction in the synthesis of melanin. Even though our results indicate that downregulation of KIT and MITF-M expression is involved in white phenotype production in llamas, the causative gene of white coat color remains unknown.

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“…Por otro lado, Guzmán (2011) reporto PNSs para el gen TLR4, sin embargo, no encontró asociación entre animales sanos y enfermos afectados por Pasteurella multocida. Diversos autores han reportado PNSs en la secuencia de genes relacionados a la expresión del color del vellón en alpacas (Cransberg y Munyard, 2011;Chandramohan et al, 2013;Guridi et al, 2011;Chandramohan et al, 2015) También Mamani et al (2017) con el objetivo de desarrollar una micromatriz semi-densa de PNSs identificó 50,686 PNSs en alpacas a partir del genotipado de un panel de radiación celular hibrido alpaca/hámster con una micromatriz de alta densidad de bovino.…”

Section: Introductionunclassified

Identificación bioinformática de Polimorfismos de Nucleótido Simple (PNSs) en genes candidatos para las características de la fibra en alpacas (Vicugna pacos)

2019

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El objetivo fue identificar y predecir la ubicación de polimorfismos de nucleótido simple (PNSs) en genes relacionados al crecimiento de la fibra. Se realizó el estudio con un total de 31 genes de queratina (KRT9, KRT12, KRT13, KRT14, KRT16, KRT18, KRT20, KRT25, KRT1, KRT3, KRT5, KRT6a, KRT6b, KRT6c, KRT7, KRT8, KRT71, KRT80, KRT31, KRT32, KIRT40, KRT81, KRT82, KRT10, KRT15, KRT17, KRT19, KRT2, KRT4, KRT79 y KRT83) asociados con las características de lana, fibra y pelo en ovinos, cabras y humanos respectivamente, cuyas secuencias fueron encontradas en la base de datos del National Center for Biotechnology Information (NCBI). Mediante el uso de bases de datos y herramientas bioinformáticas como el Conserved Domains Database, Spling, y MegaBlast se logró ubicar secuencias únicas para cada gen. Estas secuencias fueron comparadas con los genomas de referencia Vicugna_pacos-2.0.2 y Vi_pacos_V1.0. Se identificaron 48 PNSs ubicados en las regiones intrónicas y exónicas de 22 genes. No se localizaron PNSs en o alrededor de los genes KRT10, KRT15, KRT17, KRT19, KRT2, KRT4, KRT6b, KRT6c y KRT79. El análisis comparativo entre las cuatro especies estudiadas permitió observar que los genes KRT81, KRT6b y KRT6c no están presentes en los genomas de referencia de alpaca, los genes KRT31, KRT14, KRT81, KRT83, KRT6b y KRT6c no están presentes en el genoma de referencia de ovino y los genes KRT31, KRT13, KRT81, KRT83, KRT6b y KRT6c no están presentes en el genoma de referencia de cabra.

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The alpaca agouti gene: Genomic locus, transcripts and causative mutations of eumelanic and pheomelanic coat color

Cited by 41 publications

References 44 publications

The Alpaca Melanocortin 1 Receptor: Gene Mutations, Transcripts, and Relative Levels of Expression in Ventral Skin Biopsies

The Alpaca Melanocortin 1 Receptor: Gene Mutations, Transcripts, and Relative Levels of Expression in Ventral Skin Biopsies

Characterization and expression analysis of KIT and MITF‐M genes in llamas and their relation to white coat color

Identificación bioinformática de Polimorfismos de Nucleótido Simple (PNSs) en genes candidatos para las características de la fibra en alpacas (Vicugna pacos)

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