The <scp><i>KIT</i></scp>:c.<scp>376G</scp>&gt;A variant in German and Swiss alpacas (<i>Vicugna pacos</i>) with different coat colors

Tan, Kirsty; Roy, Mia; Manz, Eberhard; Wagner, Henrik; Zanolari, Patrik; Drögemüller, Cord; Lühken, Gesine

doi:10.1111/age.13231

Cited by 3 publications

(5 citation statements)

References 6 publications

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“…However, the genetics behind the white coat phenotype in this species is still unknown. In this regard, variants on KIT were associated in alpaca with gray‐ and blue‐eyed white phenotypes (Jones et al, 2019; Tan et al, 2022) owing to its important role in melanogenesis (Roskoski, 2005). Moreover, previous segregation analysis suggested that the inheritance of white color in this species was due to a single gene which is completely dominant over black and brown pigmentation (Valbonesi et al, 2011).…”

Section: Family Phenotype C35g>a (Parg12his) C982g>c (Pval328leu)mentioning

confidence: 99%

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Whole‐genome sequencing of alpaca revealed variants in KIT gene potentially associated with the white coat phenotype

Pallotti,

Antonini,

Napolioni

et al. 2023

Animal Genetics

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Section: Family Phenotype C35g>a (Parg12his) C982g>c (Pval328leu)mentioning

confidence: 99%

“…The association between variants on ASIP, KIT and MC1R genes and fleece color has been described for alpaca (Chandramohan et al, 2015;Feeley et al, 2016;Jones et al, 2019;Pallotti et al, 2020;Tan et al, 2022). However, the genetics behind the white coat phenotype in this species is still unknown.…”

mentioning

confidence: 99%

Whole‐genome sequencing of alpaca revealed variants in KIT gene potentially associated with the white coat phenotype

Pallotti,

Antonini,

Napolioni

et al. 2023

Animal Genetics

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“…A recent paper examininig the genome sequence data of two alpaca trios with Suri and Huacaya animals confirmed the dominant inheritance of the Suri fleece type postulated here (Pallotti et al, 2023). One of the two KIT missense variants (XM_031688000.1:c.35G>A) they presented as a candidate causal variant for the white coat phenotype was absent from the genomes of the nine whole-genome sequenced alpacas from our study, while the other variant (XM_031688000.1:c.982G>C) is absent in two completely white alpacas and heterozygous in two pigmented alpacas including a grey Huacaya that also carries the most likely causal missense variant (XM_031688000.1: c.391G>A) reported previously (Jones et al, 2019;Tan et al, 2022). Preliminary conclusions of Pallotti et al (2023) are therefore invalidated by our data (Table S4).…”

mentioning

confidence: 58%

Identification of genomic regions associated with differences in fleece type in Huacaya and Suri alpacas (Vicugna pacos)

Tan,

Adeniyi,

Letko

et al. 2023

Animal Genetics

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The difference in fleece type is the distinguishing trait between the two types of alpacas (Vicugna pacos), Huacaya and Suri. The Suri fleece type has been found to be inherited dominantly over the Huacaya type, resulting in offspring with the Suri phenotype. The aim of our study was to map genomic regions associated with the two different fleece types. In this study, 91 alpacas (54 Huacayas and 37 Suris) from Germany and Switzerland were genotyped using the 76k alpaca SNP array. Only 59k chromosome‐localised markers map to the alpaca reference assembly VicPac3.1, and after quality control 49 866 SNPs, were retained for population structure assessment and to conduct a genome‐wide association study. Both principal component and neighbour‐joining tree analysis showed that the two fleece‐type cohorts overlapped rather than forming two distinct clusters. Genome‐wide significantly associated markers were observed in the scaffold region of chromosome 16 (NW_021964192.1), which contains a cluster of keratin genes. A haplotype predominantly found in Suri alpacas has been identified which supports dominant inheritance. Variant filtering of nine whole‐genome sequenced alpacas from both fleece types in the critical interval of 0.4 Mb did not reveal perfect segregation of either fleece type for specific variants. To our knowledge, this is the first study to use the recently developed species‐specific SNP array to identify genomic regions associated with differences in fleece type in alpacas. There are still some limitations, such as the preliminary status of the reference assembly and the incomplete annotation of the alpaca genome.

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“…Resultados similares fueron reportados por Jones et al (2019) en alpacas grises australianas y de fenotipo BEW. De igual manera, Tan et al (2022) en alpacas alemanas y suizas.…”

Section: Discussionunclassified

“…La proteína KIT consiste en un dominio extracelular con cinco hebillas similares a inmunoglobulina, región transmembrana, un dominio yuxtamembrana y una división de dominio TK, que se divide en adenosina región de unión a trifosfato (ATP) y una región fosfotransferasa mediante una inserción de ci-nasa hidrófila (Yarden et al, 1987;Hanks et al, 1988;Pawson, 2002). Un gran número de mutaciones en el gen KIT afectan a la pigmentación y fueron descritos en humanos (Fleischman et al, 1991;Spritz et al, 1992), ratones (Chabot et al, 1988;Geissler et al, 1988), cerdos (Pielberg et al, 2002), vacunos (Fontanesi et al, 2010), caballos (Haase et al, 2007;Dürig et al, 2017), gatos (Cooper et al, 2006), perros (Wong et al, 2013), burros (Haase et al, 2015), zorros (Yan et al, 2013) y alpacas (Jones et al, 2019;Tan et al, 2022;Pallotti et al, 2023). El objetivo de este estudio fue analizar la asociación entre alpacas de color con el gen KIT, así como el fenotipo BEW, incluyendo una muestra pequeña de vicuñas y guanacos.…”

Section: Introductionunclassified

Variantes del gen KIT y su relación con el vellón gris y blanco, así como ojos azules (fenotipo BEW) en alpacas

Melo-Rojas,

Bravo-Matheus,

Arias-Flores

et al. 2024

ITEA

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La alpaca (Vicugna pacos) presenta siete colores básicos y hasta 21 tonalidades para la industria textil. El manto de color más abundante es el blanco debido a un gen dominante y el gris es de interés para la industria de la moda. Por otro lado, los ojos azules (BEW-blue eyed white) que presentan algunas alpacas son una característica indeseable por estar considerada como un defecto genético; sin embargo, está presente en alpacas y llamas. El gen KIT, se ha asociado con el color gris y blanco en diferentes especies animales. En este estudio se analizó los 21 exones, incluyendo fragmentos de regiones intrónicas del gen KIT en 303 alpacas, 12 vicuñas y 3 guanacos. Se identificaron 6 SNPs no sinónimos, de estos un cambio de glicina por arginina en la posición aminoacídica 126 (c.376G>A) estuvo asociado fuertemente con el color gris y el fenotipo BEW (P < 0,00001). Un 95,2 % de alpacas grises y el total de alpacas con ojos azules fueron heterocigotas, el resto de animales analizados fueron homocigotos para el alelo de tipo salvaje. De igual manera, el cambio de valina por leucina en la posición aminoacídica 323 (c.967C>G) y el cambio de adenina por guanina en la posición +17 3'UTR mostraron asociación con el color blanco (P < 0,001) en alpacas mayormente heterocigotas. Este trabajo confirma que el gen KIT está asociado a las alpacas grises, blancas, así como al fenotipo BEW.

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The KIT:c.376G>A variant in German and Swiss alpacas (Vicugna pacos) with different coat colors

Cited by 3 publications

References 6 publications

Whole‐genome sequencing of alpaca revealed variants in KIT gene potentially associated with the white coat phenotype

Whole‐genome sequencing of alpaca revealed variants in KIT gene potentially associated with the white coat phenotype

Identification of genomic regions associated with differences in fleece type in Huacaya and Suri alpacas (Vicugna pacos)

Variantes del gen KIT y su relación con el vellón gris y blanco, así como ojos azules (fenotipo BEW) en alpacas

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