| First Author | Bamshad M | Year | 1997 |
| Journal | Nat Genet | Volume | 16 |
| Issue | 3 | Pages | 311-5 |
| PubMed ID | 9207801 | Mgi Jnum | J:43886 |
| Mgi Id | MGI:1346580 | Doi | 10.1038/ng0797-311 |
| Citation | Bamshad M, et al. (1997) Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome [published erratum appears in Nat Genet 1998 May;19(1):102]. Nat Genet 16(3):311-5 |
| abstractText | 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. |
