Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: no association between an exonic polymorphism and Alzheimer's disease.
Calsenilin is a recently-identified member of the neuronal calcium sensor family. Like other members of this family, it is found in the brain and binds calcium. Calsenilin was discovered by virtue of its interaction with both presenilin-1 and -2, proteins that are involved in the etiology of Alzheimer's disease. Because calsenilin may play a role in Alzheimer's disease and other disease with alterations in calcium homeostasis, we characterized the human gene. The gene, which we localized to chromosome 2, extends over a region of at least 74 kb and includes nine exons. Interestingly, the ninth exon of calsenilin contains a highly polymorphic CA repeat, adjacent to the stop codon. In a study of Alzheimer patients and their unaffected siblings, there was no evidence of association of AD with any calsenilin allele. This CA repeat will be useful for linkage and linkage disequilibrium studies to determine whether calsenilin variants contribute to risk in other diseases.
Buxbaum
J D
JD
Department of Psychiatry, Mount Sinai School of Medicine, One Gustave L. Levy Place, Box 1230, New York, NY 10029, USA. buxbaj01@doc.mssm.edu
Lilliehook
C
C
Chan
J Y
JY
Go
R C
RC
Bassett
S S
SS
Tanzi
R E
RE
Wasco
W
W
Blacker
D
D
D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D006801:Humans; D051605:Kv Channel-Interacting Proteins; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic / Q000235:genetics*; D012097:Repressor Proteins
D002135:Calcium-Binding Proteins; C496749:KCNIP3 protein, human; D051605:Kv Channel-Interacting Proteins; D012097:Repressor Proteins