D Mavel

Publications (3)85.42 Total impact

• Article: A physical map of human chromosome 14.

  T Brüls, G Gyapay, J L Petit, F Artiguenave, V Vico, S Qin, A M Tin-Wollam, C Da Silva, D Muselet, D Mavel, E Pelletier, M Levy, A Fujiyama, F Matsuda, R Wilson, L Rowen, L Hood, J Weissenbach, W Saurin, R Heilig
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  ABSTRACT: We report the construction of a tiling path of around 650 clones covering more than 99% of human chromosome 14. Clone overlap information to assemble the map was derived by comparing fully sequenced clones with a database of clone end sequences (sequence tag connector strategy). We selected homogeneously distributed seed points using an auxiliary high-resolution radiation hybrid map comprising 1,895 distinct positions. The high long-range continuity and low redundancy of the tiling path indicates that the sequence tag connector approach compares favourably with alternative mapping strategies.
  Nature 03/2001; 409(6822):947-8. · 36.28 Impact Factor
• Article: Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

  J Hazan, N Fonknechten, D Mavel, C Paternotte, D Samson, F Artiguenave, C S Davoine, C Cruaud, A Dürr, P Wincker, P Brottier, L Cattolico, V Barbe, J M Burgunder, J F Prud'homme, A Brice, B Fontaine, B Heilig, J Weissenbach
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  ABSTRACT: Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Among the four loci causing AD-HSP identified so far, the SPG4 locus at chromosome 2p2-1p22 has been shown to account for 40-50% of all AD-HSP families. Using a positional cloning strategy based on obtaining sequence of the entire SPG4 interval, we identified a candidate gene encoding a new member of the AAA protein family, which we named spastin. Sequence analysis of this gene in seven SPG4-linked pedigrees revealed several DNA modifications, including missense, nonsense and splice-site mutations. Both SPG4 and its mouse orthologue were shown to be expressed early and ubiquitously in fetal and adult tissues. The sequence homologies and putative subcellular localization of spastin suggest that this ATPase is involved in the assembly or function of nuclear protein complexes.
  Nature Genetics 11/1999; 23(3):296-303. · 35.53 Impact Factor
• Article: Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.

  C Paternotte, D Rudnicki, C Fizames, C S Davoine, D Mavel, A Dürr, D Samson, C Marquette, D Muselet, N Vega-Czarny, N Drouot, T Voit, B Fontaine, G Gyapay, G Auburger, J Weissenbach, J Hazan
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  ABSTRACT: Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Three loci on chromosome 14q (SPG3), 2p (SPG4), and 15q (SPG6) were shown to be responsible for AD-FSP. Analysis of recombination events in three SPG3-linked families allowed us to narrow the critical interval from 9 to 5 cM. An approximately 5-Mb YAC contig comprising 32 clones and 90 STSs was built from D14S301 to D14S991, encompassing this region of 14q21. Fifty-six ESTs assigned previously to this region with radiation hybrid (RH) panels Genebridge 4 and G3 were precisely localized on the YAC contig. The 90 STSs positioned on the contig were tested on the TNG RH panel to compare our YAC-based map with an RH map at a high level of resolution. Comparison between our map and the whole genome mapping data on this interval of chromosome 14q is discussed.
  Genome Research 12/1998; 8(11):1216-27. · 13.61 Impact Factor