Allelic heterogeneity of<i>FGF5</i>mutations causes the long-hair phenotype in dogs

Dierks, Claudia; Mömke, S.; Philipp, Ute; Distl, O.

doi:10.1111/age.12010

Cited by 48 publications

(43 citation statements)

References 11 publications

(36 reference statements)

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“…Hair growth was considered to be regulated by hairless gene, FOXI3 13, hypertrichosis gene, FGF13, Trps1, Sox9 1415, and hair overgrowth gene, ABCA5 16. However, natural long hair, well described angora phenotype, results from a regulator gene, FGF5 , in many kinds of mammals1718192021. Here FGF5 have been included in the candidate genes sets based on low heterozygosity and high genetic differentiation in IMCG population (Fig.…”

Section: Discussionmentioning

confidence: 99%

Scanning of selection signature provides a glimpse into important economic traits in goats (Capra hircus)

Guan

Luo

Tan³

et al. 2016

Sci Rep

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Goats (Capra hircus) are one of the oldest livestock domesticated species, and have been used for their milk, meat, hair and skins over much of the world. Detection of selection footprints in genomic regions can provide potential insights for understanding the genetic mechanism of specific phenotypic traits and better guide in animal breeding. The study presented here has generated 192.747G raw data and identified more than 5.03 million single-nucleotide polymorphisms (SNPs) and 334,151 Indels (insertions and deletions). In addition, we identified 155 and 294 candidate regions harboring 86 and 97 genes based on allele frequency differences in Dazu black goats (DBG) and Inner Mongolia cashmere goats (IMCG), respectively. Populations differentiation reflected by Fst values detected 368 putative selective sweep regions including 164 genes. The top 1% regions of both low heterozygosity and high genetic differentiation contained 239 (135 genes) and 176 (106 genes) candidate regions in DBG and IMCG, respectively. These genes were related to reproductive and productive traits, such as “neurohypophyseal hormone activity” and “adipocytokine signaling pathway”. These findings may be conducive to molecular breeding and the long-term preservation of the valuable genetic resources for this species.

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Section: Discussionmentioning

confidence: 99%

Scanning of selection signature provides a glimpse into important economic traits in goats (Capra hircus)

Guan

Luo

Tan³

et al. 2016

Sci Rep

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“…A previous study on the sequence analysis of the FGF5 gene in short and long-haired corgis found that the FGF5:p.Cys95Phe mutation appeared to be completely concordant with the long-hair phenotype (Housley and Venta, 2006). Recent studies have indicated that all long-hair-associated mutations follow a recessive mode of inheritance, and allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs (Dierks et al, 2013). Similarly, mutations within the FGF5 gene are associated with hair length in cats (Drögemüller et al, 2007;Kehler et al, 2007).…”

Section: Introductionmentioning

confidence: 94%

Cloning, molecular characterization, and expression pattern of FGF5 in Cashmere goat (Capra hircus)

Bao¹,

Yao²,

He³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Fibroblast growth factor 5 (FGF5) is a secreted signaling protein that belongs to the FGF family, and was found to be associated with hair growth in humans and other animals. The Inner Mongolia Cashmere goat (Capra hircus) is a goat breed that provides superior cashmere; this breed was formed by spontaneous mutation in China. Here, we report the cloning, molecular characterization, and expression pattern of the Cashmere goat FGF5. The cloned FGF5 cDNA was 813 base pairs (KM596772), including an open reading frame encoding a 270-amino-acid polypeptide. The nucleotide sequence shared 99% homology with Ovis aries FGF5 (NM_001246263.1). Bioinformatic analysis revealed that FGF5 contained a signal peptide, an FGF domain, and a heparin-binding growth factor/FGF family signature. There was 1 cAMP-and cGMP-dependent protein kinase phosphorylation site, 11 protein kinase C phosphorylation sites, 4 casein kinase II phosphorylation sites, 1 amidation site, 1 N-glycosylation site, and 1 tyrosine kinase phosphorylation site in FGF5. Real-time polymerase chain reaction showed that FGF5 mRNA levels were higher in testis than in the pancreas and liver. These data suggest that FGF5 may play a crucial role in Cashmere goat hair growth.

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“…Indeed, the angora mouse mutant carries a 2-kb loss-of-function deletion in Fgf5 and displays a delayed catagen onset and excessively long truncal hair [7]. Loss-of-function mutations associated with long-hair phenotypes have been described in several mammalian species including mice [4,8], dogs [9,10] and cats [11,12], which support a conserved role of FGF5 in the regulation of hair growth.…”

Section: Introductionmentioning

confidence: 99%

Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys

2014

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BackgroundSeven donkey breeds are recognized by the French studbook. Individuals from the Pyrenean, Provence, Berry Black, Normand, Cotentin and Bourbonnais breeds are characterized by a short coat, while those from the Poitou breed (Baudet du Poitou) are characterized by a long-hair phenotype. We hypothesized that loss-of-function mutations in the FGF5 (fibroblast growth factor 5) gene, which are associated with a long-hair phenotype in several mammalian species, may account for the special coat feature of Poitou donkeys. To the best of our knowledge, mutations in FGF5 have never been described in Equidae.MethodsWe sequenced the FGF5 gene from 35 long-haired Poitou donkeys, as well as from a panel of 67 short-haired donkeys from the six other French breeds and 131 short-haired ponies and horses.ResultsWe identified a recessive c.433_434delAT frameshift deletion in FGF5, present in Poitou and three other donkey breeds and a recessive nonsense c.245G > A substitution, present in Poitou and four other donkey breeds. The frameshift deletion was associated with the long-hair phenotype in Poitou donkeys when present in two copies (n = 31) or combined with the nonsense mutation (n = 4). The frameshift deletion led to a stop codon at position 159 whereas the nonsense mutation led to a stop codon at position 82 in the FGF5 protein. In silico, the two truncated FGF5 proteins were predicted to lack the critical β strands involved in the interaction between FGF5 and its receptor, a mandatory step to inhibit hair growth.ConclusionsOur results highlight the allelic heterogeneity of the long-hair phenotype in donkeys and enlarge the panel of recessive FGF5 loss-of-function alleles described in mammals. Thanks to the DNA test developed in this study, breeders of non-Poitou breeds will have the opportunity to identify long-hair carriers in their breeding stocks.Electronic supplementary materialThe online version of this article (doi:10.1186/s12711-014-0065-5) contains supplementary material, which is available to authorized users.

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Allelic heterogeneity ofFGF5mutations causes the long-hair phenotype in dogs

Cited by 48 publications

References 11 publications

Scanning of selection signature provides a glimpse into important economic traits in goats (Capra hircus)

Scanning of selection signature provides a glimpse into important economic traits in goats (Capra hircus)

Cloning, molecular characterization, and expression pattern of FGF5 in Cashmere goat (Capra hircus)

Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys

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