Isolation of genes from the Batten candidate region using exon amplification
Corresponding Author
T. J. Lerner
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, New Mexico
Neurology Department, Harvard Medical School, Boston, Massachusetts
Molecular Neurogenetics Unit, The Massachusetts General Hospital, Building 149, 13th St., Charlestown, MA 02129Search for more papers by this authorK. L. D'Arigo
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, New Mexico
Search for more papers by this authorJ. L. Haines
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, New Mexico
Neurology Department, Harvard Medical School, Boston, Massachusetts
Search for more papers by this authorN. A. Doggett
Division of Life Sciences, Los Alamos National Laboratory, Los Alamos, New Mexico
Search for more papers by this authorP. E. M. Taschner
Department of Genetics, Leiden University, The Netherlands
Search for more papers by this authorN. de Vos
Department of Genetics, Leiden University, The Netherlands
Search for more papers by this authorA. J. Buckler
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, New Mexico
Neurology Department, Harvard Medical School, Boston, Massachusetts
Search for more papers by this authorCorresponding Author
T. J. Lerner
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, New Mexico
Neurology Department, Harvard Medical School, Boston, Massachusetts
Molecular Neurogenetics Unit, The Massachusetts General Hospital, Building 149, 13th St., Charlestown, MA 02129Search for more papers by this authorK. L. D'Arigo
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, New Mexico
Search for more papers by this authorJ. L. Haines
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, New Mexico
Neurology Department, Harvard Medical School, Boston, Massachusetts
Search for more papers by this authorN. A. Doggett
Division of Life Sciences, Los Alamos National Laboratory, Los Alamos, New Mexico
Search for more papers by this authorP. E. M. Taschner
Department of Genetics, Leiden University, The Netherlands
Search for more papers by this authorN. de Vos
Department of Genetics, Leiden University, The Netherlands
Search for more papers by this authorA. J. Buckler
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, New Mexico
Neurology Department, Harvard Medical School, Boston, Massachusetts
Search for more papers by this authorAbstract
In order to identify genes originating from the Batten disease candidate region, we have used the technique of exon amplification to identify transcribed sequences. This procedure produces trapped exon clones, which can represent single exons or multiple exons spliced together and is an efficient method for obtaining probes for physical mapping and for screening cDNA libraries. The source of DNA for these experiments was a collection of chromosome 16 cosmid contigs isolated by the direct subcloning of region-specific yeast artificial chromosomes (YACs) and hybridization of inter-alu PCR products from these YACs to the flow-sorted Los Alamos chromosome 16 cosmid library. We are now using the resulting exon probes to screen retina and brain cDNA libraries for candidate JNCL genes. © 1995 Wiley-Liss, Inc.
References
- Bird A (1986): CpG-rich islands and the function of DNA methylation. Nature 321: 209–213.
- Buckler AJ, Chang DC, Graw SL, Brook JD, Haber DA, Sharp PA, Housman DE (1991): Exon amplification: A strategy to isolate mammalian genes based on RNA splicing. Proc Natl Acad Sci U S A 88: 4005–4009.
- Church DM, Stotler CJ, Rutter JL, Murrell JR, Trofatter JA, Buckler AJ (1994): Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet 6: 98–105.
- Doggett NA, Mitchison H, Mundt MO, Callen DF, Torney DC, Deaven LL, Sutherland GR, Mole SE, Gardiner RM, Moyzis RK (1993): Construction of cosmid, YAC, and STS maps in the Batten disease region of chromosome 16. Am J Hum Genet 53 (Suppl): 1285.
- Dooley TP, Obermoeller RD, Leiter EH, Chapman HD, Falany CN, Deng Z, Siciliano (1993): mapping of the phenol sulfotransferase gene (STP) to human chromosome 16p12.1–p11.2 and to mouse chromosome 7. Genomics 18: 440–443.
- Dooley TP, Probst P, Obermoeller RD, Siciliano MJ, Doggett NA, Callen DF, Mitchison HM, Mole SE (1995): Phenol sulfotransferases: Candidate genes for Batten disease. Am J Med Genet 57: 327–332.
- Eiberg H, Gardiner RM, Mohr J (1989): Batten disease (Spielmeyer-Sjögren disease) and haptoglobin (HP): Indication of linkage and assignment to chromosome 16. Clin. Genet 36: 217–218.
- Fearon ER, Cho KR, Nigro JM, Kern SE, Simons JW, Ruppert JM, Hamilton SR, Preingwer AC, Thomas G, Kinzler KW, Vogelstein B (1990): Identification of a chromosome 18q gene that is altered in colorectal cancers. Science 247: 49–56.
- Huntington Disease Collaborative Research Group (1993): A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington Disease chromosomes. Cell 72: 971–983.
- Jarvela I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuij LA, Renlund M, White R, Aula P, Peltonen L (1991): Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics 9: 170–173.
- Jarvela I, Mitchison HM, Callen DF, Lerner TJ, Doggett NA, Taschner PEM, Gardiner RM, Mole SE (1995): Physical map of the region containing the gene for Batten disease (CLN3). Am J Med Genet 57: 316–319.
- Lerner TJ, Boustany R-MN, MacCormack K, Gleitsman J, Schlumpf K, Breakefield XO, Gusella JF, Haines JL (1994): Linkage disequilibrium between the juvenile ceroid lipofuscinosis gene and marker loci on chromosome 16p12.1. Am J Hum Genet 54: 88–94.
- Mitchison HM, Thompson AD, Mulley JC, Kozman HM, Richards RI, Callen DF, Stallings RL, Doggett NA, Attwood J, McKay TR, Sutherland GR, Gardiner RM (1993): Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci. Genomics 16: 455–460.
- Mitchison HM, Taschner PEM, O'Rawe AM, De Vos N, Phillips HA, Thompson AD, Kozman HM, Haines JL, Schlumpf K, D'Arigo K, Boustany R-MN, Callen DF, Breuning MH, Gardiner RM, Mole SE, Lerner TJ (1994): Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288–D16S383 by analysis of haplotypes and allelic association. Genomics 22: 465–468.
- Mitchison HM, O'Rawe AM, Lerner TJ, Taschner PEM, Schlumpf K, D'Arigo K, Haines JL, De Vos N, Phillips HA, Thompson AD, Gormally E, Callen DF, Breuning MH, Gardiner RM, Mole SE (1995): Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288–D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits. Am J Med Genet 57: 312–315.
- Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM (1986): Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323: 646–650.
- Rider JA, Rider DL (1988): Batten disease: past, present, and future. Am J Med Genet Suppl 5: 21–26.
- Savukoski M, Kestila M, Williams R, Jarvela I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L (1994): Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinosis. Am J Hum Genet 55: 695–701.
- Taschner PEM, De Vos N, Barth PG, Breuning MH, and the Batten Disease Consortium (1995): D16S298 null allele may be associated with a deletion of (part of) the CLN3 gene involved in juvenile neuronal ceroid lipofuscinosis (Batten disease) in a Moroccan patient. Am J Hum Genet (in press).
- Trofatter JA, MacCollin M, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon A, Pulaski K, Haase VH, Ambrose CM, Munroe D, Bove C, Haines JL, Martuza RL, MacDonald ME, Seizinger BR, Short MP, Buckler AJ, Gusella JF (1993): A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibro-matosis 2 tumor suppressor. Cell 72: 791–800.
- Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J (1993): Iso-lation of a candidate gene for Menkes disease and evidence that it encodes a copper transporting ATPase. Nature Genet 3: 7–13.
- Williams R, Vesa J, Jarvela I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D, Stallings R, Peltonen L, Gardiner M (1993): Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): Evidence that the late-infantile sub-type (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes. Am J Hum Genet 53: 931–935.
- Yan WL, Boustany RMN, Konradi C, Ozelius L, Lerner T, Trofatter JA, Julier C, Breakefield XO, Gusella JF, Haines JL (1993): Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. Am J Hum Genet 52: 89–95.