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


Bamshad, Michael; Lin, Robert C; Law, David J; Watkins, W Scott; Krakowiak, Patrycja A; Moore, Mary E; Franceschini, Piergiorgio; Lala, Roberto; Holmes, Lewis B; Gebuhr, Tom C; Bruneau, Benoit G; Schinzel, Albert; Seidman, J G; Seidman, Christine E; Jorde, Lynn B (1997). Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nature Genetics, 16(3):311-315.

Abstract

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.

Abstract

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Uncontrolled Keywords:Genetics, Genetics (clinical), DNA Mutational Analysis
Language:English
Date:1 July 1997
Deposited On:27 Sep 2023 15:03
Last Modified:29 Apr 2024 01:40
Publisher:Nature Publishing Group
ISSN:1061-4036
OA Status:Closed
Publisher DOI:https://doi.org/10.1038/ng0797-311
Related URLs:https://www.nature.com/articles/ng0598-102a (Publisher)
PubMed ID:9207801
Other Identification Number:Corpus ID: 2415047