Endoglin is a homodimeric membrane glycoprotein primarily associated w
ith human vascular endothelium. It is also found on bone marrow proery
throblasts. activated monocytes and on lymphoblasts in childhood leuke
mia. Endoglin has recently been described as a component of the transf
orming growth factor-beta (TGF-beta) receptor system as it can bind TG
F-beta1 with high affinity. We now report on the localization of the h
uman endoglin gene (END) to human chromosome 9, by Southern blot analy
sis of Bg/II fragments of DNA from human-hamster somatic cell hybrids.
This chromosomal localization was confirmed by fluorescent in situ hy
bridization coupled with Distamicin A (DA)/4',6-diamidino-2-phenylindo
le (DAPI) banding on human chromosomes. The regional localization was
assigned to 9q34 --> qter by GTG-banding (G-banding by trypsin using G
iemsa stain), indicating a telomeric position with respect to the Phil
adelphia breakpoint.