Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds

Marjo Kristiina Hytönen, Anais Grall, Benoit Hedan, Stephane Dreano, Samuel J Seguin, Delphine Delattre, Anne Thomas, Francis Galibert, Lars Paulin, Hannes Lohi, Kirsi Sainio, Catherine Andre

    Research output: Contribution to journalArticleScientificpeer-review

    Abstract

    "Dogs differ greatly in their morphological characteristics including various tail phenotypes. Congenitally short-tailed dogs are present in many breeds; however, the causative mutation located in the T-box transcription factor T gene (C189G) had only been described in the bobtailed Pembroke Welsh Corgis. We investigated here the presence of the T gene mutation in 23 other breeds (360 dogs, including 156 natural short tailed) in which natural bobtailed dogs exist. In the 17 breeds in which the C189G mutation was observed, there was a perfect correlation between this mutation and the short-tail phenotype. However, 6 breeds did not carry the known substitution or any other mutations in the T gene coding regions. No dogs were found to be homozygous for the C189G mutation, suggesting that the homozygous condition is lethal. In order to study the effect of the T gene mutation on litter size, we compared the number of puppies born from short-tailed parents to that born from long-tailed parents. In the Swedish Vallhund breed, we observed a 29% decrease in the litter size when both parents were short tailed. Given that the T gene mutation is not present in all breeds of short-tailed dog, there must be yet other genetic factors affecting tail phenotypes to be discovered."
    Original languageEnglish
    JournalJournal of Heredity
    Volume100
    Issue number2
    Pages (from-to)236-240
    Number of pages5
    ISSN0022-1503
    DOIs
    Publication statusPublished - 2009
    MoE publication typeA1 Journal article-refereed

    Fields of Science

    • dog
    • mutation
    • short-tail phenotype
    • T-box transcription factor T
    • MESODERM FORMATION
    • MOUSE
    • GENE
    • PHENOTYPE
    • 413 Veterinary science

    Cite this

    Hytönen, M. K., Grall, A., Hedan, B., Dreano, S., Seguin, S. J., Delattre, D., ... Andre, C. (2009). Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds. Journal of Heredity, 100(2), 236-240. https://doi.org/10.1093/jhered/esn085
    Hytönen, Marjo Kristiina ; Grall, Anais ; Hedan, Benoit ; Dreano, Stephane ; Seguin, Samuel J ; Delattre, Delphine ; Thomas, Anne ; Galibert, Francis ; Paulin, Lars ; Lohi, Hannes ; Sainio, Kirsi ; Andre, Catherine. / Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds. In: Journal of Heredity. 2009 ; Vol. 100, No. 2. pp. 236-240.
    @article{ac727dc9a5e84294818239e6c6db7d34,
    title = "Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds",
    abstract = "{"}Dogs differ greatly in their morphological characteristics including various tail phenotypes. Congenitally short-tailed dogs are present in many breeds; however, the causative mutation located in the T-box transcription factor T gene (C189G) had only been described in the bobtailed Pembroke Welsh Corgis. We investigated here the presence of the T gene mutation in 23 other breeds (360 dogs, including 156 natural short tailed) in which natural bobtailed dogs exist. In the 17 breeds in which the C189G mutation was observed, there was a perfect correlation between this mutation and the short-tail phenotype. However, 6 breeds did not carry the known substitution or any other mutations in the T gene coding regions. No dogs were found to be homozygous for the C189G mutation, suggesting that the homozygous condition is lethal. In order to study the effect of the T gene mutation on litter size, we compared the number of puppies born from short-tailed parents to that born from long-tailed parents. In the Swedish Vallhund breed, we observed a 29{\%} decrease in the litter size when both parents were short tailed. Given that the T gene mutation is not present in all breeds of short-tailed dog, there must be yet other genetic factors affecting tail phenotypes to be discovered.{"}",
    keywords = "dog, mutation, short-tail phenotype, T-box transcription factor T, MESODERM FORMATION, MOUSE, GENE, PHENOTYPE, 413 Veterinary science",
    author = "Hyt{\"o}nen, {Marjo Kristiina} and Anais Grall and Benoit Hedan and Stephane Dreano and Seguin, {Samuel J} and Delphine Delattre and Anne Thomas and Francis Galibert and Lars Paulin and Hannes Lohi and Kirsi Sainio and Catherine Andre",
    year = "2009",
    doi = "10.1093/jhered/esn085",
    language = "English",
    volume = "100",
    pages = "236--240",
    journal = "Journal of Heredity",
    issn = "0022-1503",
    publisher = "Oxford University Press",
    number = "2",

    }

    Hytönen, MK, Grall, A, Hedan, B, Dreano, S, Seguin, SJ, Delattre, D, Thomas, A, Galibert, F, Paulin, L, Lohi, H, Sainio, K & Andre, C 2009, 'Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds', Journal of Heredity, vol. 100, no. 2, pp. 236-240. https://doi.org/10.1093/jhered/esn085

    Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds. / Hytönen, Marjo Kristiina; Grall, Anais; Hedan, Benoit; Dreano, Stephane; Seguin, Samuel J; Delattre, Delphine; Thomas, Anne; Galibert, Francis; Paulin, Lars; Lohi, Hannes; Sainio, Kirsi; Andre, Catherine.

    In: Journal of Heredity, Vol. 100, No. 2, 2009, p. 236-240.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds

    AU - Hytönen, Marjo Kristiina

    AU - Grall, Anais

    AU - Hedan, Benoit

    AU - Dreano, Stephane

    AU - Seguin, Samuel J

    AU - Delattre, Delphine

    AU - Thomas, Anne

    AU - Galibert, Francis

    AU - Paulin, Lars

    AU - Lohi, Hannes

    AU - Sainio, Kirsi

    AU - Andre, Catherine

    PY - 2009

    Y1 - 2009

    N2 - "Dogs differ greatly in their morphological characteristics including various tail phenotypes. Congenitally short-tailed dogs are present in many breeds; however, the causative mutation located in the T-box transcription factor T gene (C189G) had only been described in the bobtailed Pembroke Welsh Corgis. We investigated here the presence of the T gene mutation in 23 other breeds (360 dogs, including 156 natural short tailed) in which natural bobtailed dogs exist. In the 17 breeds in which the C189G mutation was observed, there was a perfect correlation between this mutation and the short-tail phenotype. However, 6 breeds did not carry the known substitution or any other mutations in the T gene coding regions. No dogs were found to be homozygous for the C189G mutation, suggesting that the homozygous condition is lethal. In order to study the effect of the T gene mutation on litter size, we compared the number of puppies born from short-tailed parents to that born from long-tailed parents. In the Swedish Vallhund breed, we observed a 29% decrease in the litter size when both parents were short tailed. Given that the T gene mutation is not present in all breeds of short-tailed dog, there must be yet other genetic factors affecting tail phenotypes to be discovered."

    AB - "Dogs differ greatly in their morphological characteristics including various tail phenotypes. Congenitally short-tailed dogs are present in many breeds; however, the causative mutation located in the T-box transcription factor T gene (C189G) had only been described in the bobtailed Pembroke Welsh Corgis. We investigated here the presence of the T gene mutation in 23 other breeds (360 dogs, including 156 natural short tailed) in which natural bobtailed dogs exist. In the 17 breeds in which the C189G mutation was observed, there was a perfect correlation between this mutation and the short-tail phenotype. However, 6 breeds did not carry the known substitution or any other mutations in the T gene coding regions. No dogs were found to be homozygous for the C189G mutation, suggesting that the homozygous condition is lethal. In order to study the effect of the T gene mutation on litter size, we compared the number of puppies born from short-tailed parents to that born from long-tailed parents. In the Swedish Vallhund breed, we observed a 29% decrease in the litter size when both parents were short tailed. Given that the T gene mutation is not present in all breeds of short-tailed dog, there must be yet other genetic factors affecting tail phenotypes to be discovered."

    KW - dog

    KW - mutation

    KW - short-tail phenotype

    KW - T-box transcription factor T

    KW - MESODERM FORMATION

    KW - MOUSE

    KW - GENE

    KW - PHENOTYPE

    KW - 413 Veterinary science

    U2 - 10.1093/jhered/esn085

    DO - 10.1093/jhered/esn085

    M3 - Article

    VL - 100

    SP - 236

    EP - 240

    JO - Journal of Heredity

    JF - Journal of Heredity

    SN - 0022-1503

    IS - 2

    ER -