TY - JOUR
T1 - Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus
AU - Hellsten, E.
AU - Vesa, J.
AU - Heiskanen, M.
AU - Mäkelä, T. P.
AU - Järvelä, I.
AU - Cowell, J. K.
AU - Mead, S.
AU - Alitalo, K.
AU - Palotie, A.
AU - Peltonen, L.
N1 - Funding Information:
We thank Dr. Eero Vuorio for the COL9A2 cDNA probes, Dr. Matt Warman for the COL9AZ 3’ UTR primer sequences, Drs. Charles Buys (GLC281, Gerad Evan (CORL47, CORL881, and Jonas Bergh (U1690) for cell lines, Dr. Ann-Christine Syvanen and Dr. Arm Ja-lanko for their valuable comments and critical reading of the manuscript, and Ms. Tuula Airaksinen for her excellent technical assistance. This study was supported by the Academy of Finland, the Paulo Foundation, and the Rinnekoti Research Foundation.
PY - 1995
Y1 - 1995
N2 - Infantile neuronal ceroid lipofuscinosis (INCL, CLN1) is a neurodegenerative disorder in which the biochemical defect is unknown. We earlier assigned the disease locus to chromosome 1p32 in the immediate vicinity of the highly informative HY-TM1 marker by linkage and linkage disequilibrium analysis. Here we report the construction of PFGE maps on the CLN1 region covering a total of 4 Mb of this relatively poorly mapped chromosomal region. We established the order of loci at 1p32 as tel-D1S57-L-myc-HY-TM1-rlf-COL9A2-D1S193-D1S62-D1S211-cen by combining data obtained from analysis of a chromosome 1 somatic cell hybrid panel, PFGE, and interphase FISH. We isolated YACs and constructed two separate YAC contigs, the loci L-myc, HY-TM1, rlf, and COL9A2 being present on a 1000-kb contig and the markers D1S193, D1S62, and D1S211 on a YAC contig spanning a maximum of 860 kb. Within the 1000-kb contig we were able to identify fiveCpG islands in addition to those associated with the earlier cloned genes. The YAC contigs as well as the physical map provide us with tools for the identification of the INCL gene.
AB - Infantile neuronal ceroid lipofuscinosis (INCL, CLN1) is a neurodegenerative disorder in which the biochemical defect is unknown. We earlier assigned the disease locus to chromosome 1p32 in the immediate vicinity of the highly informative HY-TM1 marker by linkage and linkage disequilibrium analysis. Here we report the construction of PFGE maps on the CLN1 region covering a total of 4 Mb of this relatively poorly mapped chromosomal region. We established the order of loci at 1p32 as tel-D1S57-L-myc-HY-TM1-rlf-COL9A2-D1S193-D1S62-D1S211-cen by combining data obtained from analysis of a chromosome 1 somatic cell hybrid panel, PFGE, and interphase FISH. We isolated YACs and constructed two separate YAC contigs, the loci L-myc, HY-TM1, rlf, and COL9A2 being present on a 1000-kb contig and the markers D1S193, D1S62, and D1S211 on a YAC contig spanning a maximum of 860 kb. Within the 1000-kb contig we were able to identify fiveCpG islands in addition to those associated with the earlier cloned genes. The YAC contigs as well as the physical map provide us with tools for the identification of the INCL gene.
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U2 - 10.1016/0888-7543(95)80040-S
DO - 10.1016/0888-7543(95)80040-S
M3 - Article
C2 - 7789974
AN - SCOPUS:0028953842
SN - 0888-7543
VL - 25
SP - 404
EP - 412
JO - Genomics
JF - Genomics
IS - 2
ER -