TY - JOUR
T1 - CCG repeats in cDNAs from human brain
AU - Kleiderlein, John J.
AU - Nisson, Paul E.
AU - Jessee, Joel
AU - Li, Wu Bo
AU - Becker, Kevin G.
AU - Derby, Michael L.
AU - Ross, Christopher A.
AU - Margolis, Russell L.
N1 - Funding Information:
Acknowledgements The authors would like to thank Duane Bartlett, Roxann Ashworth, and Dr. Alan Scott from the Johns Hopkins Genetics Core Facility for assistance with sequencing. This work was supported in part by a National Alliance for Research on Schizophrenia and Depression Established Investigator Award to C.A.R., NIH MH01275, NIH MH50763, and a grant by the Cortext foundation.
PY - 1998
Y1 - 1998
N2 - Expansion mutations of trinucleotide repeats and other units of unstable DNA have been proposed to account for at least some of the genetic susceptibility to a number of neuropsychiatric disorders, including bipolar affective disorder, schizophrenia, autism, and panic disorder. To generate additional candidate genes for these and other disorders, cDNA libraries from human brain were probed at high stringency for clones containing CCG, CGC, GCC, CGG, GCG, and GGC repeats (referred to collectively as CCG repeats). Some 18 cDNAs containing previously unpublished or uncharacterized repeats were characterized for chromosomal locus, repeat length polymorphism, and similarity to genes of known function. The cDNAs were also compared with the 37 human genes with eight or more consecutive CCG triplets in GenBank. The repeats were mapped to a number of loci, including 1p34, 2p11.2, 2q30-32, 3p21, 3p22, 4q35, 6q22, 7qter, 13p13, 17q24, 18p11, 19p13.3, 20q12, 20q13.3, and 22q12. Length polymorphism was detected in 50% of the repeats. The newly cloned cDNAs include a complete transcript of human neurexin-1B, a portion of BCNG-1 (a newly described brain-specific ion channel), a previously unreported polymorphic repeat located in the 5' UTR region of the guanine nucleotide-binding protein (G-protein) β2 subunit, and a human version of the mouse proline-rich protein 7. This list of cDNAs should expedite the search for expansion mutations associated with diseases of the central nervous system.
AB - Expansion mutations of trinucleotide repeats and other units of unstable DNA have been proposed to account for at least some of the genetic susceptibility to a number of neuropsychiatric disorders, including bipolar affective disorder, schizophrenia, autism, and panic disorder. To generate additional candidate genes for these and other disorders, cDNA libraries from human brain were probed at high stringency for clones containing CCG, CGC, GCC, CGG, GCG, and GGC repeats (referred to collectively as CCG repeats). Some 18 cDNAs containing previously unpublished or uncharacterized repeats were characterized for chromosomal locus, repeat length polymorphism, and similarity to genes of known function. The cDNAs were also compared with the 37 human genes with eight or more consecutive CCG triplets in GenBank. The repeats were mapped to a number of loci, including 1p34, 2p11.2, 2q30-32, 3p21, 3p22, 4q35, 6q22, 7qter, 13p13, 17q24, 18p11, 19p13.3, 20q12, 20q13.3, and 22q12. Length polymorphism was detected in 50% of the repeats. The newly cloned cDNAs include a complete transcript of human neurexin-1B, a portion of BCNG-1 (a newly described brain-specific ion channel), a previously unreported polymorphic repeat located in the 5' UTR region of the guanine nucleotide-binding protein (G-protein) β2 subunit, and a human version of the mouse proline-rich protein 7. This list of cDNAs should expedite the search for expansion mutations associated with diseases of the central nervous system.
UR - http://www.scopus.com/inward/record.url?scp=0032406199&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032406199&partnerID=8YFLogxK
U2 - 10.1007/s004390050889
DO - 10.1007/s004390050889
M3 - Article
C2 - 9921901
AN - SCOPUS:0032406199
SN - 0340-6717
VL - 103
SP - 666
EP - 673
JO - Human genetics
JF - Human genetics
IS - 6
ER -