RGD Reference Report - Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. - Rat Genome Database

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Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.

Authors: Bamshad, M  Lin, RC  Law, DJ  Watkins, WC  Krakowiak, PA  Moore, ME  Franceschini, P  Lala, R  Holmes, LB  Gebuhr, TC  Bruneau, BG  Schinzel, A  Seidman, JG  Seidman, CE  Jorde, LB 
Citation: Bamshad M, etal., Nat Genet 1997 Jul;16(3):311-5.
RGD ID: 1302837
Pubmed: PMID:9207801   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0797-311   (Journal Full-text)

Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. We demonstrate that mutations in human TBX3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families. Each mutation (a single nucleotide deletion and a splice-site mutation) is predicted to cause haploinsufficiency of TBX3, implying that critical levels of this transcription factor are required for morphogenesis of several organs. Limb abnormalities of ulnar-mammary syndrome involve posterior elements. Mutations in TBX5, a related and linked gene, cause anterior limb abnormalities in Holt-Oram syndrome. We suggest that during the evolution of TBX3 and TBX5 from a common ancestral gene, each has acquired specific yet complementary roles in patterning the mammalian upper limb.

Objects referenced in this article
Gene Tbx3 T-box 3 Mus musculus
Gene Tbx3 T-box transcription factor 3 Rattus norvegicus

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