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State of the project:
Primers used for amplification and sequencing of SPG4 17 exons.
The SPG4 cDNA sequence.
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.