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Mesoderm posterior 2

Mesp2, mesoderm posterior 2
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. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008] (from NCBI)
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Top mentioned proteins: Dlx5, Lfng, Hes7, CAN, HAD
Papers on Mesp2
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
Duncan et al., Australia. In Hum Mol Genet, Apr 2015
In humans, mutations in several genes involved in the Notch pathway are associated with SDV, with both autosomal recessive (MESP2, DLL3, LFNG, HES7) and autosomal dominant (TBX6) inheritance.
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.
Wade et al., Sydney, Australia. In Plos One, 2014
Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect.
A systems genetics study of swine illustrates mechanisms underlying human phenotypic traits.
Huang et al., Nanchang, China. In Bmc Genomics, 2014
By leveraging a human protein-protein interaction network, we identified two putative candidate causal genes TGFB3 and DAB2IP and the known regulators MESP1 and MESP2 as responsible for the variation in rib number and identified the potential underlying molecular mechanisms.
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Dunwoodie et al., Sydney, Australia. In Hum Mol Genet, 2013
Over the past decade, the genetic basis of several forms of autosomal recessive SCD cases has been solved with the identification of four causative genes (DLL3, MESP2, LFNG and HES7).
Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?
Turnpenny et al., Lucknow, India. In Am J Med Genet A, 2012
Results of cytogenetic and molecular genetic tests performed, including routine karyotype, MLPA (multiplex ligation-dependent probe amplification) for common microdeletions and subtelomeric copy number variants, microarray-CGH analysis, and sequencing of four Notch signaling pathway genes (DLL3, MESP2, LFNG, and HES7), were all normal.
Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.
Hopkin et al., Cincinnati, United States. In Am J Med Genet A, 2012
We propose overexpression of three genes, ADAMTSL3, MESP1, and MESP2 as a potential mechanism for cardiac and vessel malformations associated with tetrasomy 15q.
Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.
Qiu et al., Nanjing, China. In Stud Health Technol Inform, 2011
MESP2, HES7 and DUSP6 genes may not be involved in the etiopathogenesis of sporadic and non-syndromic CS in Chinese Han population.
Identification of genes for bone mineral density variation by computational disease gene identification strategy.
Huang et al., Wuhan, China. In J Bone Miner Metab, 2011
Prediction of transcription factor binding suggested that the minor allele G of rs10178256 might abolish the binding of MESP1 and MESP2 which play vital roles in bone homeostasis, whereas the minor allele G of rs6214 might create an additional binding site for XBP1, a constitutive regulator of endoplasmic reticulum stress response.
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome).
Cowles et al., New York City, United States. In Pediatr Radiol, 2011
In contrast, spondylothoracic dysostosis (STD), or Lavy-Moseley syndrome, results in more severe respiratory compromise, is largely linked to Puerto Rican cohorts and is thought to be associated to the MESP2 gene, also a Notch pathway gene.
The repression of Notch signaling occurs via the destabilization of mastermind-like 1 by Mesp2 and is essential for somitogenesis.
Saga et al., Mishima, Japan. In Development, 2011
Data demonstrate that Mesp2 is a novel component involved in the suppression of Notch target genes.
The oscillation of Notch activation, but not its boundary, is required for somite border formation and rostral-caudal patterning within a somite.
Saga et al., Mishima, Japan. In Development, 2010
Data propose a novel function of Notch signaling, in which a progressive oscillating wave of Notch activity is translated into the rostral-caudal polarity of a somite by regulating Mesp2 expression in the anterior presomitic mesoderm.
Spondylocostal Dysostosis, Autosomal Recessive
Young et al., Seattle, United States. In Unknown Journal, 2009
Subtypes are defined by identification of two mutant alleles in any one of the four genes in which mutations are known to cause autosomal recessive (AR) SCDO: DLL3, MESP2, LFNG, and HES7.
The role of Notch in patterning the human vertebral column.
Dunwoodie, Sydney, Australia. In Curr Opin Genet Dev, 2009
More specifically it describes that mutations in genes encoding Notch pathway components (DLL3, MESP2, LFNG and HES7) cause severe congenital vertebral defects in humans.
Functional importance of evolutionally conserved Tbx6 binding sites in the presomitic mesoderm-specific enhancer of Mesp2.
Saga et al., Tokyo, Japan. In Development, 2008
An Mesp2 enhancer knockout mouse bearing mutations in two crucial Tbx6 binding sites does not express Mesp2 in the presomitic mesoderm.
Mesp2 and Tbx6 cooperatively create periodic patterns coupled with the clock machinery during mouse somitogenesis.
Saga et al., Mishima, Japan. In Development, 2008
Mesp2 protein leads to the suppression of Tbx6 protein expression post-translationally via rapid degradation mediated by the ubiquitin-proteasome pathway
Defective somitogenesis and abnormal vertebral segmentation in man.
Turnpenny, Exeter, United Kingdom. In Adv Exp Med Biol, 2007
Only a minority of abnormal segmentation phenotypes appear to follow Mendelian inheritance but three genes--DLL3, MESP2 and LNFG--have now been identified for spondylocostal dysostosis (SCD), a spinal malformation characterized by extensive hemivertebrae, trunkal shortening and abnormally aligned ribs with points of fusion.
Disruption of the somitic molecular clock causes abnormal vertebral segmentation.
Dunwoodie et al., Sydney, Australia. In Birth Defects Res C Embryo Today, 2007
spondylocostal dysostosis (SCD) is caused by mutation in Delta-like 3 (DLL3), Mesoderm posterior 2 (MESP2), and Lunatic fringe (LFNG); three genes that are components of the Notch signaling pathway.
Abnormal vertebral segmentation and the notch signaling pathway in man.
Dunwoodie et al., Exeter, United Kingdom. In Dev Dyn, 2007
Only rarely do AVS phenotypes follow clear Mendelian inheritance, but three genes-DLL3, MESP2, and LNFG-have now been identified for spondylocostal dysostosis (SCD).
The Mesp2 transcription factor establishes segmental borders by suppressing Notch activity.
Saga et al., Mishima, Japan. In Nature, 2005
developmental protein "wavefront" is generated by suppression of Notch activity by mesoderm posterior 2 (Mesp2) through induction of the lunatic fringe gene (Lfng)
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