Protein-coding gene in the species Homo sapiens
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 .[ 5]
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.[ 5] [ 6]
Clinical significance
Mutations in the MESP2 gene cause autosomal recessive Spondylocostal dysostosis type 2.[ 7]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000188095 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030543 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b "Entrez Gene: mesoderm posterior 2 homolog (mouse)" .^ Windner SE, Doris RA, Ferguson CM, Nelson AC, Valentin G, Tan H, Oates AC, Wardle FC, Devoto SH (Mar 2015). "Tbx6, Mesp-b and Ripply1 regulate the onset of skeletal myogenesis in zebrafish" . Development . 142 (6): 1159– 68. doi :10.1242/dev.113431 . PMC 4360180 PMID 25725067 . ^ 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 (Jun 2008). "Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome" . American Journal of Human Genetics . 82 (6): 1334– 41. doi :10.1016/j.ajhg.2008.04.014 . PMC 2427230 PMID 18485326 .
Further reading
Morimoto M, Kiso M, Sasaki N, Saga Y (Dec 2006). "Cooperative Mesp activity is required for normal somitogenesis along the anterior-posterior axis" . Developmental Biology . 300 (2): 687– 98. doi :10.1016/j.ydbio.2006.08.043 PMID 16996494 . McLellan AS, Langlands K, Kealey T (Dec 2002). "Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening" . Mechanisms of Development . 119 (Suppl 1): S285-91. doi :10.1016/S0925-4773(03)00130-8 PMID 14516699 . S2CID 5903576 . Haraguchi S, Kitajima S, Takagi A, Takeda H, Inoue T, Saga Y (Oct 2001). "Transcriptional regulation of Mesp1 and Mesp2 genes: differential usage of enhancers during development" . Mechanisms of Development . 108 (1– 2): 59– 69. doi :10.1016/S0925-4773(01)00478-6 PMID 11578861 . S2CID 9238477 . 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 (Jun 2008). "Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome" . American Journal of Human Genetics . 82 (6): 1334– 41. doi :10.1016/j.ajhg.2008.04.014 . PMC 2427230 PMID 18485326 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
(1) Basic domains
(1.1) Basic leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH )
Group A Group B Group CPAS Group D Group E Group F
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors
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