A study of inherited short tail and taillessness in Pembroke Welsh corgi

Indrebø, Astrid; Langeland, M.; Juul, H. M.; Skogmo, Hege Kippenes; Rengmark, Aina; Lingaas, Frode

doi:10.1111/j.1748-5827.2007.00435.x

Cited by 18 publications

(26 citation statements)

References 11 publications

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“…Short-tailed phenotypes in mouse (Wu et al 2010) and dog (Haworth et al 2001; Hytonen et al 2009; Indrebo et al2008) have been associated with naturally occurring T mutants and induced by disrupting Brachyury expression in model organisms such as zebrafish (Schulte-Merker et al 1994) and Xenopus (Conlon et al 1996). Complete absence of the tail is a phenotype found virtually only in the Manx cat.…”

Section: Discussionmentioning

confidence: 99%

Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats

et al. 2013

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Most mammals possess a tail, humans and the Great Apes being notable exceptions. One approach to understanding the mechanisms and evolutionary forces influencing development of a tail is to identify the genetic factors that influence extreme tail length variation within a species. In mice, the Tailless locus has proven to be complex, with evidence of multiple different genes and mutations with pleiotropic effects on tail length, fertility, embryogenesis, male transmission ratio, and meiotic recombination. Five cat breeds have abnormal tail length phenotypes: the American Bobtail, the Manx, the Pixie-Bob, the Kurilian Bobtail, and the Japanese Bobtail. We sequenced the T gene in several independent lineages of Manx cats from both the US and the Isle of Man and identified three 1-bp deletions and one duplication/deletion, each predicted to cause a frameshift that leads to premature termination and truncation of the carboxy terminal end of the Brachyury protein. Ninety-five percent of Manx cats with short-tail phenotypes were heterozygous for T mutations, mutant alleles appeared to be largely lineage-specific, and a maximum LOD score of 6.21 with T was obtained at a recombination fraction (Θ) of 0.00. One mutant T allele was shared with American Bobtails and Pixie-Bobs; both breeds developed more recently in the US. The ability of mutant Brachyury protein to activate transcription of a downstream target was substantially lower than wild-type protein. Collectively, these results suggest that haploinsufficiency of Brachyury is one mechanism underlying variable tail length in domesticated cats.

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Section: Discussionmentioning

confidence: 99%

Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats

et al. 2013

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“…Additionally, several dog breeds exhibit short or bob-tails occurring at low frequency. These are caused by heterozygous variations in T and homozygosity for these variations is lethal and associated with vertebral defects and anorectal atresia 15 16…”

Section: Introductionmentioning

confidence: 99%

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

et al. 2013

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“…In mice a similar phenotype can be induced by forcing expression of Hox-d12 in the thumb region. 90 breeds of dogs 29 and cats. 30 Likewise, the reshaping of our spine during the transition to bipedalism may have been due to various Hox genes having captured target genes that bias growth to one side of the vertebral column or the other (dorsal versus ventral), thus evoking curves where none had existed before.…”

Section: The Homeobox Epiphanymentioning

confidence: 99%

The evolutionary geometry of human anatomy: Discovering our inner fly

Held¹

2010

Evolutionary Anthropology

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The human body is one still frame in a very long evolutionary movie. Anthropologists focus on the last few scenes, whereas geneticists try to trace the screenplay back as far as possible. Despite their divergent time scales (millions versus billions of years), both disciplines share a reliance on a third field of study whose scope spans only a matter of days to months, depending on the organism. Embryology is crucial for understanding both the pliability of anatomy and the modularity of gene circuitry. The relevance of human embryology to anthropology is obvious. What is not so obvious is the notion that equally useful clues about human anatomy can be gleaned by studying the development of the fruit fly, an animal as different from us structurally as it is distant from us evolutionarily. The underlying kinship between ourselves and flies has only become apparent recently, thanks to revelations from the nascent field of evolutionary developmental biology, or evo-devo. All bilaterally symmetric animals, it turns out, share a common matrix of body axes, a common lexicon of intercellular signals, and a common arsenal of genetic gadgetry that evolution has tweaked in different ways in different lineages to produce a dazzling spectrum of shapes and patterns. Anthropologists can exploit this deep commonality to search our genome more profitably for the mutations that steered us so far astray from our fellow apes.

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A study of inherited short tail and taillessness in Pembroke Welsh corgi

Cited by 18 publications

References 11 publications

Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats

Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

The evolutionary geometry of human anatomy: Discovering our inner fly

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