OMIA:002841-30538 : Fleece variation, TRPV3-related in Vicugna pacos (alpaca)

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607066 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2024

Species-specific name: Suri

Species-specific description: Palotti et al. (2024): "Two phenotypes are described for alpaca, known as huacaya and suri. Huacaya fleece is characterized by compact, soft, and highly crimped fibers, while suri fleece is longer, straight, less crimped, and lustrous." 

Inheritance: Palottie et al. (2024): "Segregation studies suggested that two linked loci must simultaneously be homozygous for recessive alleles to produce the huacaya phenotype while the suri phenotype is determined by the presence of a dominant allele at either locus [Presciuttini et al., 2010]." Palottie et al. (2024) propose a domiannt mode of inheritance.

Mapping: More et al. (2023) aimed to identify "candidate genomic regions associated with fiber diameter in [Huacaya] alpacas. ... Four candidate regions with adjacent SNPs identified via two association methods of analysis are located on VPA6, VPA9, VPA29 and one chromosomally unassigned scaffold." Tan et al. (2024) mapped differences in Suri and Huacaya fleece type to "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."

Molecular basis: Palotti et al. (2024): "a premature termination codon (PTC) due to C > T substitution (p.Arg167*) was identified in FGF5 (fibroblast growth factor 5), a gene involved in the elongation of the fibre [Pallotti et al., 2018], and genome-wide studies found selection signals on this gene [Fan et al., 2020; Palotti et al., 2023]. Nevertheless, such variant was observed in both phenotypes and, although it may explain the coat differences observed between alpaca and its wild ancestor, it cannot account alone for the differences observed between suri and huacaya coats. ... The analysis of gene variant segregation with the suri phenotype, coupled with the filtering of gene variants present in the wild species, disclosed the presence in all the suri samples of a premature termination codon (PTC) in TRPV3 (transient receptor potential cation channel subfamily V member 3), a gene known to be involved in hair growth and cycling, thermal sensation, cold tolerance and adaptation in several species. ... This PTC in TRPV3, due to a G > T substitution [c.1423G>T] (p.Glu475*), results in a loss of 290 amino acids from the canonical translated protein, plausibly leading to a physiological dysfunction."

Breed: Suri (Alpaca) (VBO_0000040).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TRPV3 transient receptor potential cation channel subfamily V member 3 Vicugna pacos NW_021964189.1 (4233903..4277987) TRPV3 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1682 Suri (Alpaca) Fleece variation, Suri type TRPV3 nonsense (stop-gain) Naturally occurring variant VicPac3.2 16 NW_021964189.1:g.4265902G>T XM_031685167.1:c.1423G>T XP_031541027.1:p.(E475*) 2024 38365607

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002841-30538: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Pallotti, S., Picciolini, M., Deiana, G., Pediconi, D., Antonini, M., Napolioni, V., Renieri, C. :
Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype. BMC Genomics 25:185, 2024. Pubmed reference: 38365607. DOI: 10.1186/s12864-024-10086-8.
Tan, K., Adeniyi, O.O., Letko, A., RuddGarces, G., Manz, E., Wagner, H., Zanolari, P., Drögemüller, C., Lühken, G. :
Identification of genomic regions associated with differences in fleece type in Huacaya and Suri alpacas (Vicugna pacos). Anim Genet 55:163-167, 2024. Pubmed reference: 37985006. DOI: 10.1111/age.13377.
2023 Gutiérrez, J.P., Cruz, A., Morante, R., Burgos, A., Formoso-Rafferty, N., Cervantes, I. :
Genetic parameters for fleece uniformity in alpacas. J Anim Sci 101:skad140, 2023. Pubmed reference: 37144830. DOI: 10.1093/jas/skad140.
More, M., Veli, E., Cruz, A., Gutiérrez, J.P., Gutiérrez, G., Ponce de León, F.A. :
Genome-wide association study of fiber diameter in alpacas. Animals (Basel) 13:3316, 2023. Pubmed reference: 37958071. DOI: 10.3390/ani13213316.
Pallotti, S., Picciolini, M., Antonini, M., Renieri, C., Napolioni, V. :
Genome-wide scan for runs of homozygosity in South American Camelids. BMC Genomics 24:470, 2023. Pubmed reference: 37605116. DOI: 10.1186/s12864-023-09547-3.
2020 Fan, R., Gu, Z., Guang, X., Marín, J.C., Varas, V., González, B.A., Wheeler, J.C., Hu, Y., Li, E., Sun, X., Yang, X., Zhang, C., Gao, W., He, J., Munch, K., Corbett-Detig, R., Barbato, M., Pan, S., Zhan, X., Bruford, M.W., Dong, C. :
Genomic analysis of the domestication and post-Spanish conquest evolution of the llama and alpaca. Genome Biol 21:159, 2020. Pubmed reference: 32616020. DOI: 10.1186/s13059-020-02080-6.
2018 Pallotti, S., Pediconi, D., Subramanian, D., Molina, M.G., Antonini, M., Morelli, M.B., Renieri, C., La Terza, A. :
Evidence of post-transcriptional readthrough regulation in FGF5 gene of alpaca. Gene 647:121-128, 2018. Pubmed reference: 29307854. DOI: 10.1016/j.gene.2018.01.006.
2010 Presciuttini, S., Valbonesi, A., Apaza, N., Antonini, M., Huanca, T., Renieri, C. :
Fleece variation in alpaca (Vicugna pacos): a two-locus model for the Suri/Huacaya phenotype. BMC Genet 11:70, 2010. Pubmed reference: 20646304. DOI: 10.1186/1471-2156-11-70.

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  • Created by Imke Tammen2 on 08 Apr 2024
  • Changed by Imke Tammen2 on 08 Apr 2024