Identification and functional characterization of the human EXT1 promoter region.

Background: Mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2) cause the autosomal dominant disorder multiple osteochondromas (MO). This disease is mainly characterized by the appearance of multiple cartilage-capped protuberances arising from children's metaphyses and is known to display clinical inter- and intrafamilial variations. EXT1 and EXT2 are both tumor suppressor genes encoding proteins that function as glycosyltransferases, catalyzing the biosynthesis of heparan sulfate.

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families.

Background: Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called multiple osteochondromas (MO), an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped bone tumors at children's metaphyses. MO is caused by various mutations in EXT1 or EXT2, whereby large genomic deletions (single-or multi-exonic) are responsible for up to 8% of MO-cases.

Expression, purification, and crystallization of neuro- and cytoglobin.

Neuroglobin and cytoglobin, members of the globin family, are present in vertebrate cells at very low concentrations. As the function of both proteins is still a matter of debate, it is very important to be able to produce and purify these proteins, and in general all members of the globin family, to homogeneity. For this purpose, this chapter describes the expression of neuro- and cytoglobin by E.