Homo sapiens

The aim of this project is to identify the gene responsible for the most frequent form of autosomal dominant spastic paraplegia. This gene has been mapped to a 1.5 Mb-region, between markers AFM296vg9 (D25352) and AFM339yf9 (D2S2347) at 2p21-p22.

A BAC contig spanning the entire candidate region was constructed (Hazan et al., Genomics (1999) 60:309-319). Please note that the correct clone name of BAC G is 563N04 (and not 763N04 as indicated in the Genomics paper).

SPG4 has recently been identified (Hazan et al., Nature Genetics (1999) 23:296-303): it encodes spastin, a putative nuclear AAA protein, which is homologous to yeast 26S proteasome subunits. Five different mutations, all suggesting a loss of spastin function, have been found in seven SPG4-linked AD-HSP families.