Mutated MESP2 Causes Spondylocostal Dysostosis in Humans

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Mutated MESP2 Causes Spondylocostal Dysostosis in Humans Neil V. Whittock, Duncan B. Sparrow, Merridee A. Wouters, David Sillence, Sian Ellard, Sally L. Dunwoodie, Peter D. Turnpenny The American Journal of Human Genetics Volume 74, Issue 6, Pages 1249-1254 (June 2004) DOI: 10.1086/421053 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of the family affected with SCD, MESP2 type, demonstrating disease-linked haplotype. Affected members II.2 and II.3 are indicated by fully blackened symbols. The American Journal of Human Genetics 2004 74, 1249-1254DOI: (10.1086/421053) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Anteroposterior MRI of the spine of individual II.2. The morphology of the thoracic spine and the upper cervical spine is severely disrupted, with multiple hemivertebrae, whereas the remaining regions show less severe disruption. The American Journal of Human Genetics 2004 74, 1249-1254DOI: (10.1086/421053) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 3 Detection of the mutation 500–503dup by direct nucleotide sequencing. The sequence of a heterozygous individual (as indicated by the arrow) (top) is compared with the normal homozygous sequence (bottom). The American Journal of Human Genetics 2004 74, 1249-1254DOI: (10.1086/421053) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 4 Comparison of MesP2 (A) and MesP1 (B), both containing a bHLH domain. MesP1 and MesP2 contain a unique CPXCP motif immediately C-terminal to the bHLH domain. C, Predicted product of the human MesP2 frameshift mutant. Xenopus and zebrafish sequences (D) are shorter at the C-terminus and have the residues C6XC in place of the CPXCP motif. The American Journal of Human Genetics 2004 74, 1249-1254DOI: (10.1086/421053) Copyright © 2004 The American Society of Human Genetics Terms and Conditions