MESP2 explained

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]

Further reading

• Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD . Mutated MESP2 causes spondylocostal dysostosis in humans . American Journal of Human Genetics . 74 . 6 . 1249–54 . Jun 2004 . 15122512 . 1182088 . 10.1086/421053 .
• Morimoto M, Kiso M, Sasaki N, Saga Y . Cooperative Mesp activity is required for normal somitogenesis along the anterior-posterior axis . Developmental Biology . 300 . 2 . 687–98 . Dec 2006 . 16996494 . 10.1016/j.ydbio.2006.08.043 . free .
• McLellan AS, Langlands K, Kealey T . Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening . Mechanisms of Development . 119 . S285-91 . Dec 2002 . Suppl 1 . 14516699 . 10.1016/S0925-4773(03)00130-8 . 5903576 . free .
• Haraguchi S, Kitajima S, Takagi A, Takeda H, Inoue T, Saga Y . Transcriptional regulation of Mesp1 and Mesp2 genes: differential usage of enhancers during development . Mechanisms of Development . 108 . 1–2 . 59–69 . Oct 2001 . 11578861 . 10.1016/S0925-4773(01)00478-6 . 9238477 . free .
• Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O . Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome . American Journal of Human Genetics . 82 . 6 . 1334–41 . Jun 2008 . 18485326 . 2427230 . 10.1016/j.ajhg.2008.04.014 .

Notes and References

1. Web site: Entrez Gene: mesoderm posterior 2 homolog (mouse).
2. Windner SE, Doris RA, Ferguson CM, Nelson AC, Valentin G, Tan H, Oates AC, Wardle FC, Devoto SH . Tbx6, Mesp-b and Ripply1 regulate the onset of skeletal myogenesis in zebrafish . Development . 142 . 6 . 1159–68 . Mar 2015 . 25725067 . 10.1242/dev.113431 . 4360180.
3. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O . Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome . American Journal of Human Genetics . 82 . 6 . 1334–41 . Jun 2008 . 18485326 . 2427230 . 10.1016/j.ajhg.2008.04.014 .