Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA

Mammalian Genome

Volumn 10, Issue 4, 1999, Pages 410-414

  Theuns, Jessie ^a   Cruts, Marc ^a   Del Favero, Jurgen ^a   Goossens, Dirk ^a   Dauwerse, Hans ^b   Wehnert, Anita ^a   Den Dunnen, Johan T ^b   Van Broeckhoven, Christine ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PRESENILIN 1;

ARTICLE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ORGANIZATION; GENETIC POLYMORPHISM; MOLECULAR CLONING; MULTIGENE FAMILY; PROTEIN DOMAIN; RESTRICTION MAPPING;

ALZHEIMER DISEASE; CLONING, MOLECULAR; DNA, COMPLEMENTARY; GENOME, HUMAN; HUMANS; MEMBRANE PROTEINS; PRESENILIN-1; RESTRICTION MAPPING;

EID: 0032813945     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359901013     Document Type: Article

References (15)

1. Clark RF, Hutton M, Fuldner RA, Froelich S, Karran E et al. (1995) The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat Genet 11, 219-222
2. Cruts M, Van Broeckhoven C (1998) Presenilin mutations in Alzheimer's disease. Hum Mutat 11, 183-190
3. Cruts M, Backhovens H, Theuns J, Clark RF, Le Paslier D et al. (1995a) Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3. Hum Mol Genet 4, 1355-1364
4. Cruts M, Backhovens H, Wang SY, Van Gassen G, Theuns J et al. (1995b) Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Hum Mol Genet 4, 2363-2371
5. Cruts M, Hendriks L, Van Broeckhoven C (1996) The presenilin genes: a new gene family involved in Alzheimer disease pathology. Hum Mol Genet 5 Spec No. 1449-1455
6. Cruts M, van Duijn C, Backhovens H, van den Broeck M, Wehnert A et al. (1998) Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet 7, 43-51
7. Datson NA, van de Vosse E, Dauwerse HG, Bout M, van Ommen G et al. (1996) Scanning for genes in large genomic regions: cosmid-based exon trapping of multiple exons in a single product. Nucleic Acids Res 24, 1105-1111
8. Del-Farero J, Goossens D, Van den Bossche D, Van Broeckhoven C. YAC fragmentation with repetitive and single copy sequences: detailed physical mapping of the presenilin 1 gene on Chromosome 14. Gene (in press)
9. Florijn RJ, Bonden LA, Vrolijk H, Wiegant J, Vaandrager JW et al. (1995) High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes. Hum Mol Genet 4, 831-836
10. Rogaev EI, Sherrington R, Wu C, Levesque G, Liang Y et al. (1997) Analysis of the 5′ sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. Genomics 40, 415-424
11. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G et al. (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's. Nature 375, 754-760
12. van Duijn CM, Cruts M, Backhovens H, Theuns J, Van Gassen G et al. (1998) Presenilins and early-onset Alzheimer's disease. Am J Hum Genet V 61S, 4, 1241
13. Wiegant J (1998) Immunocytochemical detection. Chapter 8.4 in Current Protocols in Cytometry, JP Robinson, ed. (New York: John Wiley and Sons, Inc.)
14. Wiegant J, Raap AK (1997) Probe labelling and fluorescence in situ hybridisation. Chapter 8.3 In Current Protocols in Cytometry, HJ Tanke ed. (New York: John wiley & Sons, Inc.)
15. Wiegant J, Kalle W, Mullenders L, Brookes S, Hoovers JM et al. (1992) High-resolution in situ hybridization using DNA halo preparations. Hum Mol Genet 1, 587-591