Whole Genome Analysis of a Single Scottish Deerhound Dog Family Provides Independent Corroboration That a <i>SGK3</i> Coding Variant Leads to Hairlessness

Parker, Heidi G.; Whitaker, D. Thad; Harris, Alex C.; Ostrander, Elaine A.

doi:10.1534/g3.119.400885

Cited by 5 publications

(4 citation statements)

References 37 publications

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“…Building a dataset of WGS from 722 canines, including domestic breeds, village dogs, and wild canids, over 90 million canine SNPs and insertion-deletions (indels) variants have been identified. This dataset has proven useful for the identification of multiple loci controlling body size, weight, leg length, ear size and shape, and fur-associated traits (Parker et al, 2020;Plassais et al, 2019;Whitaker and Ostrander, 2019), often verifying previous reports such as those of associated with body size (Plassais et al, 2017;Rimbault et al, 2013;Sutter et al, 2007).…”

Section: Canine Genetics Mapping Studiessupporting

confidence: 77%

Biology’s best friend: Bridging disciplinary gaps to advance canine science

Bryce

Davis

Gompper

et al. 2021

Integrative and Comparative Biology

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The rich history and global abundance of domestic dogs (Canis familiaris) present a unique opportunity and an ideal model for interdisciplinary research. Canine evolutionary history demonstrates unprecedented changes across all levels of biological organization. These include diversification from highly social, pack-dwelling wild carnivores (extant gray wolves, C. lupus), to increased dependence on humans (domestication), to modern in-home colonization featuring close physical proximity to humans (interspecies bonding). The young, emerging field of “canine science” comprises diverse biological disciplines including evolution, genetics, cognition, behavior, physiology, comparative medicine, and ecology, drawing on studies of both natural and experimental systems and scaling across all levels of biological organization, from genomes to ecosystems. However, limited connections bridge the various fields associated with canine science, although in every branch it is recognized that this species is one of the most phenotypically variable mammals. Yet there has been growing interest in integrating the insights from genomic evolution with those from ecophysiology and ecology, thus facilitating a more biologically comprehensive perspective of dogs. In particular, integrative, mechanistic, and/or ecological studies have been generally underrepresented. To address these emerging interests, we have collected the most compelling questions in the field of canine biology and present avenues of current and future research. This paper serves to both orient the reader to this special issue, as well as offer a forward-looking perspective from diverse biological sub-disciplines to highlight current and future goals in canine research.

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Section: Canine Genetics Mapping Studiessupporting

confidence: 77%

Biology’s best friend: Bridging disciplinary gaps to advance canine science

Bryce

Davis

Gompper

et al. 2021

Integrative and Comparative Biology

Self Cite

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“…Various other genes cause hairless phenotypes, such as, Keratin 71 (KRT71 ) in the sphynx cat breed [ 9 ], and Forkhead Box I3 ( Foxi3 ) in Mexican and Peruvian hairless dogs and Chinese crested dogs [ 19 ] and Serum/Glucocorticoid Regulated Kinase Family Member 3 ( SGK ) [ 62 , 63 ] in Scottish deerhounds. Hair follicle (HF) morphogenesis during embryogenesis is induced by Wnt/β-catenin signaling that leads to the development of the HF placode [ 64 ].…”

Section: Discussionmentioning

confidence: 99%

Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed

Buckley

Gandolfi

Creighton

et al. 2020

Genes

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A variety of cat breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed breed, the lykoi (a.k.a. werewolf cat), was bred from cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as a significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non-lykoi cats suggested two variants in the cat homolog for Hairless (HR) (HR lysine demethylase and nuclear receptor corepressor) as candidate causal gene variants. The lykoi cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse cats. The novel variants in HR for cat hypotrichia can now be established between minor differences in the phenotypic presentations.

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“…Variants in HR in other species are relatively rare, but causal variants of hairless are known in sheep [17], atrichia with papular lesions is also identified in macaques [16], and, in dolphins, evolutionary loss has led to HR as a pseudogene, leading to hypotrichosis in this mammal [20]. Various other genes cause the hairless phenotypes, such as, KRT71 in the sphynx breed [9], and FOXI3 [19] and SGK3 [59,60] in dogs.…”

Section: Discussionmentioning

confidence: 99%

Werewolf, there wolf: variants inHairlessassociated with hypotrichia and roaning in the lykoi cat breed

Buckley

Gandolfi

Creighton

et al. 2020

Preprint

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A variety of cat breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed breed, the lykoi, was bred from cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non-lykoi cats suggested two variants in the cat homolog for Hairless (HR: lysine demethylase and nuclear receptor corepressor) as candidate causal variants. The lykoi cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse cats. The novel variants in HR for cat hypotrichia can now be established between minor differences in the phenotypic presentations.

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Whole Genome Analysis of a Single Scottish Deerhound Dog Family Provides Independent Corroboration That a SGK3 Coding Variant Leads to Hairlessness

Cited by 5 publications

References 37 publications

Biology’s best friend: Bridging disciplinary gaps to advance canine science

Biology’s best friend: Bridging disciplinary gaps to advance canine science

Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed

Werewolf, there wolf: variants inHairlessassociated with hypotrichia and roaning in the lykoi cat breed

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