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PMID:22783020

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Citation

Somekawa, S, Imagawa, K, Hayashi, H, Sakabe, M, Ioka, T, Sato, GE, Inada, K, Iwamoto, T, Mori, T, Uemura, S, Nakagawa, O and Saito, Y (2012) Tmem100, an ALK1 receptor signaling-dependent gene essential for arterial endothelium differentiation and vascular morphogenesis. Proc. Natl. Acad. Sci. U.S.A. 109:12064-9

Abstract

Members of the transforming growth factor-β superfamily play essential roles in various aspects of embryonic development and physiological organ function. Among them, bone morphogenetic protein (BMP) 9 and BMP10 regulate embryonic vascular development by activating their endothelial receptor ALK1 (activin receptor-like kinase 1, also called Acvrl1). ALK1-mediated intracellular signaling is implicated in the etiologies of human diseases, but their downstream functional proteins are largely unknown. In this study, we identified Tmem100, a gene encoding a previously uncharacterized intracellular transmembrane protein, to be an embryonic endothelium-enriched gene activated by BMP9 and BMP10 through the ALK1 receptor. Tmem100 null mice showed embryonic lethality due to impaired differentiation of arterial endothelium and defects of vascular morphogenesis, which phenocopied most of the vascular abnormalities observed with the Acvrl1/Alk1 deficiency. The activity of Notch- and Akt-mediated signaling, which is essential for vascular development, was down-regulated in Tmem100 null mice. Cre-mediated deletion of Tmem100 in endothelial cells was sufficient to recapitulate the null phenotypes. These data indicated that TMEM100 may play indispensable roles downstream of BMP9/BMP10-ALK1 signaling during endothelial differentiation and vascular morphogenesis.

Links

PubMed PMC3409742 Online version:10.1073/pnas.1207210109

Keywords

Activin Receptors, Type I/metabolism; Animals; Arteries/cytology; Arteries/embryology; Blotting, Northern; Blotting, Southern; Blotting, Western; Bone Morphogenetic Proteins/metabolism; Cell Differentiation/physiology; Endothelium, Vascular/cytology; Endothelium, Vascular/embryology; Gene Expression Regulation, Developmental/genetics; Growth Differentiation Factor 2/metabolism; Immunohistochemistry; In Situ Hybridization; Membrane Proteins/metabolism; Mice; Mice, Inbred BALB C; Microarray Analysis; Morphogenesis/physiology; Real-Time Polymerase Chain Reaction

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:COX41

located_in

GO:0005739: mitochondrion

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:BIP

located_in

GO:0005783: endoplasmic reticulum

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:RAB5A

located_in

GO:0005768: endosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:TM100

involved_in

GO:2001214: positive regulation of vasculogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:TM100

involved_in

GO:0045603: positive regulation of endothelial cell differentiation

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:TM100

acts_upstream_of_or_within

GO:0001701: in utero embryonic development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5432904
MGI:MGI:5432905

P

Seeded From UniProt

complete

MOUSE:TM100

acts_upstream_of_or_within

GO:0001570: vasculogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5432904
MGI:MGI:5432905

P

Seeded From UniProt

complete

MOUSE:TM100

acts_upstream_of_or_within

GO:0001525: angiogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5432904
MGI:MGI:5432905

P

Seeded From UniProt

complete

MOUSE:TM100

located_in

GO:0048471: perinuclear region of cytoplasm

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:TM100

acts_upstream_of_or_within

GO:0007219: Notch signaling pathway

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5432904
MGI:MGI:5432905

P

Seeded From UniProt

complete

MOUSE:TM100

acts_upstream_of_or_within

GO:0060842: arterial endothelial cell differentiation

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5432904
MGI:MGI:5432905

P

Seeded From UniProt

complete

MOUSE:TM100

acts_upstream_of_or_within

GO:0043491: protein kinase B signaling

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:5432904
MGI:MGI:5432905

P

Seeded From UniProt

complete

MOUSE:MLP3B

located_in

GO:0005776: autophagosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:STX6

located_in

GO:0005794: Golgi apparatus

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TM100

involved_in

GO:0030509: BMP signaling pathway

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:TM100

located_in

GO:0048471: perinuclear region of cytoplasm

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TM100

located_in

GO:0005783: endoplasmic reticulum

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TM100

involved_in

GO:0071773: cellular response to BMP stimulus

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:BMP10

acts_upstream_of_or_within

GO:0010628: positive regulation of gene expression

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:GDF2

acts_upstream_of_or_within

GO:0010628: positive regulation of gene expression

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:ACVL1

acts_upstream_of_or_within

GO:0030509: BMP signaling pathway

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:3604490

P

Seeded From UniProt

complete

MOUSE:COX41

part_of

GO:0005739: mitochondrion

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete


See also

References

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