Entry - *608689 - MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 1; MESP1 - OMIM - (OMIM.ORG)

 
* 608689

MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 1; MESP1


Alternative titles; symbols

MESODERM POSTERIOR PROTEIN 1


HGNC Approved Gene Symbol: MESP1

Cytogenetic location: 15q26.1   Genomic coordinates (GRCh38) : 15:89,732,446-89,751,249 (from NCBI)


TEXT

Description

The MESP1 gene encodes a member of the basic helix-loop-helix (bHLH) family of transcriptional regulatory proteins that may play a role in the development of nascent mesoderm (summary by Saga et al., 1996).


Cloning and Expression

Saga et al. (1996) identified the mouse Mesp1 gene by subtractive hybridization to isolate genes involved in the differentiation of mouse primordial germ cells. The Mesp1 transcript encodes a 243-amino acid putative transcription factor containing a bHLH motif.

Whittock et al. (2004) stated that human MESP1 and MESP2 (605195) share 47.4% amino acid identity. Both MESP1 and MESP2 contain a unique CPXCP motif immediately C-terminal to the bHLH domain. The N- and C-terminal domains of MESP1 are separated by a 2-repeat GQ region, which in MESP2 is expanded to 13 repeats.


Gene Structure

Saga et al. (1996) determined that the mouse Mesp1 gene contains 2 exons.


Mapping

Saga et al. (1996) mapped the Mesp1 gene to mouse chromosome 7, within a region sharing homology of synteny with human chromosome 15q26. Murine Mesp1 and Mesp2 are separated by approximately 23 kb, positioned head to head, and are transcribed from the interlocus region.


Gene Function

By in situ hybridization to mouse embryos, Saga et al. (1996) detected earliest Mesp1 expression at 6.5 days post coitum (dpc) in all nascent mesodermal cells. At 7.5 dpc, Mesp1 expression was detected at the base of the allantois. Shortly thereafter, expression spread to the lateral margins of the tail bud mesoderm, in a pattern corresponding to that of the initial migration of primordial germ cells, before disappearing. No Mesp1 expression was detected in later development or in adult tissues except in testis, in which a different isoform from that seen in early mesoderm was observed. Saga et al. (1996) concluded that Mesp1 may play an important role in development of nascent mesoderm, including primordial germ cells.

Lescroart et al. (2018) performed single-cell RNA sequencing of wildtype and Mesp1-null cardiovascular progenitors (CPs) in mice and showed that populations of Mesp1 CPs are molecularly distinct and span the continuum between epiblast and later mesodermal cells, including hematopoietic progenitors. Single-cell transcriptome analysis of Mesp1-deficient CPs showed that Mesp1 is required for the exit from the pluripotent state and the induction of the cardiovascular gene expression program. Lescroart et al. (2018) identified distinct populations of Mesp1 cardiovascular progenitors that correspond to progenitors committed to different cell lineages and regions of the heart, identifying the molecular features associated with early lineage restriction and regional segregation of the heart at the early stage of mouse gastrulation.


REFERENCES

  1. Lescroart, F., Wang, X., Lin, X., Swedlund, B., Gargouri, S., Sanchez-Danes, A., Moignard, V., Dubois, C., Paulissen, C., Kinston, S., Gottgens, B., Blanpain, C. Defining the earliest step of cardiovascular lineage segregation by single-cell RNA-seq. Science 359: 1177-181, 2018. [PubMed: 29371425, related citations] [Full Text]

  2. Saga, Y., Hata, N., Kobayashi, S., Magnuson, T., Seldin, M. F., Taketo, M. M. MesP1: a novel basic helix-loop-helix protein expressed in the nascent mesodermal cells during mouse gastrulation. Development 122: 2769-2778, 1996. [PubMed: 8787751, related citations] [Full Text]

  3. Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D. Mutated MESP2 causes spondylocostal dysostosis in humans. Am. J. Hum. Genet. 74: 1249-1254, 2004. [PubMed: 15122512, images, related citations] [Full Text]


Contributors:
Ada Hamosh - updated : 07/31/2018
Creation Date:
Victor A. McKusick : 5/26/2004
carol : 07/31/2018
carol : 06/21/2017
carol : 10/14/2015
carol : 10/13/2015
alopez : 5/26/2004

* 608689

MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 1; MESP1


Alternative titles; symbols

MESODERM POSTERIOR PROTEIN 1


HGNC Approved Gene Symbol: MESP1

Cytogenetic location: 15q26.1   Genomic coordinates (GRCh38) : 15:89,732,446-89,751,249 (from NCBI)


TEXT

Description

The MESP1 gene encodes a member of the basic helix-loop-helix (bHLH) family of transcriptional regulatory proteins that may play a role in the development of nascent mesoderm (summary by Saga et al., 1996).


Cloning and Expression

Saga et al. (1996) identified the mouse Mesp1 gene by subtractive hybridization to isolate genes involved in the differentiation of mouse primordial germ cells. The Mesp1 transcript encodes a 243-amino acid putative transcription factor containing a bHLH motif.

Whittock et al. (2004) stated that human MESP1 and MESP2 (605195) share 47.4% amino acid identity. Both MESP1 and MESP2 contain a unique CPXCP motif immediately C-terminal to the bHLH domain. The N- and C-terminal domains of MESP1 are separated by a 2-repeat GQ region, which in MESP2 is expanded to 13 repeats.


Gene Structure

Saga et al. (1996) determined that the mouse Mesp1 gene contains 2 exons.


Mapping

Saga et al. (1996) mapped the Mesp1 gene to mouse chromosome 7, within a region sharing homology of synteny with human chromosome 15q26. Murine Mesp1 and Mesp2 are separated by approximately 23 kb, positioned head to head, and are transcribed from the interlocus region.


Gene Function

By in situ hybridization to mouse embryos, Saga et al. (1996) detected earliest Mesp1 expression at 6.5 days post coitum (dpc) in all nascent mesodermal cells. At 7.5 dpc, Mesp1 expression was detected at the base of the allantois. Shortly thereafter, expression spread to the lateral margins of the tail bud mesoderm, in a pattern corresponding to that of the initial migration of primordial germ cells, before disappearing. No Mesp1 expression was detected in later development or in adult tissues except in testis, in which a different isoform from that seen in early mesoderm was observed. Saga et al. (1996) concluded that Mesp1 may play an important role in development of nascent mesoderm, including primordial germ cells.

Lescroart et al. (2018) performed single-cell RNA sequencing of wildtype and Mesp1-null cardiovascular progenitors (CPs) in mice and showed that populations of Mesp1 CPs are molecularly distinct and span the continuum between epiblast and later mesodermal cells, including hematopoietic progenitors. Single-cell transcriptome analysis of Mesp1-deficient CPs showed that Mesp1 is required for the exit from the pluripotent state and the induction of the cardiovascular gene expression program. Lescroart et al. (2018) identified distinct populations of Mesp1 cardiovascular progenitors that correspond to progenitors committed to different cell lineages and regions of the heart, identifying the molecular features associated with early lineage restriction and regional segregation of the heart at the early stage of mouse gastrulation.


REFERENCES

  1. Lescroart, F., Wang, X., Lin, X., Swedlund, B., Gargouri, S., Sanchez-Danes, A., Moignard, V., Dubois, C., Paulissen, C., Kinston, S., Gottgens, B., Blanpain, C. Defining the earliest step of cardiovascular lineage segregation by single-cell RNA-seq. Science 359: 1177-181, 2018. [PubMed: 29371425] [Full Text: https://doi.org/10.1126/science.aao4174]

  2. Saga, Y., Hata, N., Kobayashi, S., Magnuson, T., Seldin, M. F., Taketo, M. M. MesP1: a novel basic helix-loop-helix protein expressed in the nascent mesodermal cells during mouse gastrulation. Development 122: 2769-2778, 1996. [PubMed: 8787751] [Full Text: https://doi.org/10.1242/dev.122.9.2769]

  3. Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D. Mutated MESP2 causes spondylocostal dysostosis in humans. Am. J. Hum. Genet. 74: 1249-1254, 2004. [PubMed: 15122512] [Full Text: https://doi.org/10.1086/421053]


Contributors:
Ada Hamosh - updated : 07/31/2018

Creation Date:
Victor A. McKusick : 5/26/2004

Edit History:
carol : 07/31/2018
carol : 06/21/2017
carol : 10/14/2015
carol : 10/13/2015
alopez : 5/26/2004