Biology:MESP2
 Generic protein structure example |
Mesoderm posterior protein 2 (MESP2), also known as class C basic helix-loop-helix protein 6 (bHLHc6), is a protein that in humans is encoded by the MESP2 gene.[1]
Function
This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm.[1] In zebrafish, the homolog mesp-b is critical for dermomyotome development.[2]
Clinical significance
Mutations in the MESP2 gene cause autosomal recessive Spondylocostal dysostosis type 2.[3]
References
- ↑ 1.0 1.1 "Entrez Gene: mesoderm posterior 2 homolog (mouse)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=145873.
- ↑ "Tbx6, Mesp-b and Ripply1 regulate the onset of skeletal myogenesis in zebrafish". Development 142 (6): 1159–68. Mar 2015. doi:10.1242/dev.113431. PMID 25725067.
- ↑ "Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome". American Journal of Human Genetics 82 (6): 1334–41. Jun 2008. doi:10.1016/j.ajhg.2008.04.014. PMID 18485326.
Further reading
- "Mutated MESP2 causes spondylocostal dysostosis in humans". American Journal of Human Genetics 74 (6): 1249–54. Jun 2004. doi:10.1086/421053. PMID 15122512.
- "Cooperative Mesp activity is required for normal somitogenesis along the anterior-posterior axis". Developmental Biology 300 (2): 687–98. Dec 2006. doi:10.1016/j.ydbio.2006.08.043. PMID 16996494.
- "Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening". Mechanisms of Development 119 (Suppl 1): S285-91. Dec 2002. doi:10.1016/S0925-4773(03)00130-8. PMID 14516699.
- "Transcriptional regulation of Mesp1 and Mesp2 genes: differential usage of enhancers during development". Mechanisms of Development 108 (1–2): 59–69. Oct 2001. doi:10.1016/S0925-4773(01)00478-6. PMID 11578861.
- "Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome". American Journal of Human Genetics 82 (6): 1334–41. Jun 2008. doi:10.1016/j.ajhg.2008.04.014. PMID 18485326.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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