GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002180
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Wild llama (Lama guanicoe) with WT hair and short fleece
Trait State in Taxon B
Domesticated llama and alpacas with long (angora) hair ; introgression from lamas to alpacas
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
guanaco
Synonyms
Lama guanicoe guanaco; guanaco
Rank
species
Lineage
Show more ... ta; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Tylopoda; Camelidae; Lama
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B #1
Latin Name
Common Name
llama
Synonyms
Camelus glama; Lama guanicoe glama; llama; Lama glama (Linnaeus, 1758); Llama glama
Rank
species
Lineage
Show more ... ta; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Tylopoda; Camelidae; Lama
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
Taxon B #2
Latin Name
Common Name
alpaca
Synonyms
Lama guanicoe pacos; Lama pacos; alpaca
Rank
species
Lineage
Show more ... Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Tylopoda; Camelidae; Vicugna
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Presumptive Null
Yes
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsense
Molecular Details of the Mutation
transition C>T at position 499 downstream of the ATG codon with transcriptional readthrough ; difference in post-transcriptional readthrough may underlie the different fleece types of the alpaca suri and huacaya breeds ; derived allele was introgressed from lamas to alpacas
Experimental Evidence
Taxon A Taxon B Position
Codon CGA TGA 167
Amino-acid Arg STP 167
Authors
Daverio MS; Vidal-Rioja L; Frank EN; Di Rocco F
Abstract
Llama, the most numerous domestic camelid in Argentina, has good fiber-production ability. Although a few genes related to other productive traits have been characterized, the molecular genetic basis of fiber growth control in camelids is still poorly understood. Fibroblast growth factor 5 (FGF5) is a secreted signaling protein that controls hair growth in humans and other mammals. Mutations in the FGF5 gene have been associated with long-hair phenotypes in several species. Here, we sequenced the llama FGF5 gene, which consists of three exons encoding 813 bp. cDNA analysis from hair follicles revealed the expression of two FGF5 alternative spliced transcripts, in one of which exon 2 is absent. DNA variation analysis showed four polymorphisms in the coding region: a synonymous SNP (c.210A>G), a single base deletion (c.348delA), a 12-bp insertion (c.351_352insCATATAACATAG) and a non-sense mutation (c.499C>T). The deletion was always found together with the insertion forming a haplotype and producing a putative truncated protein of 123 amino acids. The c.499C>T mutation also leads to a premature stop codon at position 168. In both cases, critical functional domains of FGF5, including one heparin binding site, are lost. All animals analyzed were homozygous for one of the deleterious mutations or compound heterozygous for both (i.e. c.348delA, c.351_352insCATATAACATAG/c.499T). Sequencing of guanaco samples showed that the FGF5 gene encodes a full-length 270-amino acid protein. These results suggest that FGF5 is likely functional in short-haired wild species and non-functional in the domestic fiber-producing species, the llama.

© 2017 Stichting International Foundation for Animal Genetics.
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
1
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA000439/9844/ @AllelicSeries @Parallelism @Introgression
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