Table 3

Lymphangiogenesis: genes involved in lymphatic vasculature formation

Gene
Function
Expression and function
Lymphatic phenotype

Ang2
Growth factor, ligand of Tie-2
Lymphatics express Tie receptor family members. Smooth muscle cells of large vessels. The endothelium of smaller vessels at sites of vacular remodelling induces its expression.
Hypoplasia, chylous ascites
D6
β-chemokine receptor D6
It may play a role in chemokine-driven leukocyte recycling through the lymphatics.
No available animal model
FoxC2
Forkhead/winged-helix transcription factor
Paraxial, presomitic mesodermic and developing somites. Later restricted to condensing mesenchyme of the vertebrae, head, limbs, and kidney.
Abnormal lymphatic pattern, absent valves, lymphatic vessel and lymph node hyperplasia. It is related to lymphedema-distichiasis
Elk3 (Net)
Transcription factor
Expressed by the embryonic and adult vasculature: LECs and muscle layer in the thoracic duct, intestine and skin lymphatic vessels in mid-gestation.
Lymphangiectasis, chylothorax
Lyve1
Lymphatic vessel endothelial hyaluronan receptor-1 (CD44 homolog)
Embryonic and adult LECs. Hypothesized to function in the transport of hyaluronan.
Not available
Nrp2
Non-tyrosine kinase receptor for VEGF165, VEGF145, PIGF, VEGF-C and class 3 semaphorins
Embryonic and adult LECs.
Transient hypoplasia of lymphatic capillaries.
Podoplanin
Membrane glycoprotein
Embryonic and adult LECs.
Lymphangiectasis, abnormal lymph transport, lymphedema. Respiratory failure due to abnormal lung development.
Prox1
Homeobox transcription factor
Embryonic and adult LECs. Required for further differentiation of lymphatic "biased" cells to the fully differentiated form
No lymphatic vessels, chylous ascites, adult onset obesity.
SLC
?
Embryonic and adult LECs
Not available
Vegfr3
Receptor tyrosine kinase that mediates VEGF-C/D
BECs and LECs early development, down-regulated by BECs, but remains high in LECs later during embryogenesis.
Hypoplasia, chylous ascites. It is related to Milroy disease
VEGFC
Growth factor, ligand of VEGFR3
Mesenchymal cells around embryonic veins, activated macrophages, skeletal muscle cells, and smooth muscle cells surrounding large arteries.
No lymphatic vessels, hypoplasia, chylous ascites
Tie2
Receptor for Ang1 and Ang2?
Embryonic and adult LECs?
Lymphatic defect

Ang1: angiopoietin. D6: β-chemokine receptor. ELK3: ETS-domain protein (SRF accessory protein 2). FOXC2: forkhead box C2. Lyve1: lymphatic vessel endothelial hyaluronan receptor 1. Nrp2: neuropilin 2. Prox1: prospero related homeobox 1. SLC: secondary lymphoid chemokine. Tie2: endothelial cell-specific receptor. Vegfr3: vascular endothelial growth-factor receptor 3. VegfrC: vascular endothelial growth-factor receptor C. LEC: lymphatic endothelial cell. BEC: blood endothelial cell.

Bellini et al. Orphanet Journal of Rare Diseases 2006 1:43   doi:10.1186/1750-1172-1-43