Nucleic Acids Research, Vol 26, Issue 1 248-252, Copyright © 1998 by Oxford University Press
M Varret, JP Rabes, R Thiart, MJ Kotze, H Baron, A Cenarro, O Descamps, M Ebhardt, JC Hondelijn, GM Kostner, Y Miyake, M Pocovi, H Schmidt, H Schuster, M Stuhrmann, T Yamamura, C Junien, C Beroud and C Boileau
Mutations in the LDL receptor gene (LDLR) cause familial
hypercholesterolemia (FH), a common autosomal dominant disorder. The LDLR
database is a computerized tool that has been developed to provide tools to
analyse the numerous mutations that have been identified in the LDLR gene.
The second version of the LDLR database contains 140 new entries and the
software has been modified to accommodate four new routines. The analysis
of the updated data (350 mutations) gives the following informations: (i)
63% of the mutations are missense, and only 20% occur in CpG dinucleotides;
(ii) although the mutations are widely distributed throughout the gene,
there is an excess of mutations in exons 4 and 9, and a deficit in exons 13
and 15; (iii) the analysis of the distribution of mutations located within
the ligand-binding domain shows that 74% of the mutations in this domain
affect a conserved amino- acid, and that they are mostly confined in the
C-terminal region of the repeats. Conversely, the same analysis in the
EGF-like domain shows that 64% of the mutations in this domain affect a
non-conserved amino- acid, and, that they are mostly confined in the
N-terminal half of the repeats. The database is now accessible on the World
Wide Web at http://www.umd.necker.fr
ARTICLES
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis
INSERM U383, Hopital Necker-Enfants Malades, Universite Rene Descartes, Paris V, 149-161 rue de Sevres, 75743 Paris Cedex 15, France.
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