YAC transgenics and the study of genetics and human disease

Wagner, 1981, Microinjection of a rabbit β-globin gene into zygotes and its subsequent expression in adult mice and their offspring, Proc Natl Acad Sci USA, 78, 6376, 10.1073/pnas.78.10.6376 Wagner, 1981, The human β-globin gene and a functional thymidine kinase in developing mice, Proc Natl Acad Sci USA, 78, 5016, 10.1073/pnas.78.8.5016 Harbers, 1981, Microinjection of cloned retroviral genomes into mouse zygotes: integration and expression in the animal, Nature, 293, 540, 10.1038/293540a0 Gordon, 1980, Genetic transformation of mouse embryos by microinjection of purified DNA, Proc Natl Acad Sci USA, 77, 7380, 10.1073/pnas.77.12.7380 Brinster, 1981, Somatic expression of herpes thymidine kinase in mice following injection of a fusion gene into eggs, Cell, 27, 223, 10.1016/0092-8674(81)90376-7 Jaenisch, 1988, Transgenic animals, Science, 240, 1468, 10.1126/science.3287623 Gordon, 1993, Production of transgenic mice, Methods Enzymol, 225, 747, 10.1016/0076-6879(93)25048-7 Brinster, 1988, Introns increase transcriptional efficiency in transgenic mice, Proc Natl Acad Sci USA, 85, 836, 10.1073/pnas.85.3.836 Choi, 1991, A generic intron increases gene expression in transgenic mice, Mol Cell Biol, 11, 3070, 10.1128/MCB.11.6.3070 Burke, 1987, Cloning of large segments of exogenous DNA into yeast artificial chromosomes, Science, 236, 806, 10.1126/science.3033825 Spencer, 1993, Targeted recombination-based cloning and manipulation of large DNA segments in yeast, Methods: a companion to Methods Enzymol, 5, 161, 10.1006/meth.1993.1021 Hieter, 1990, Yeast artificial chromosomes: promises kept and pending, 1, 83 Robertson, 1987, Embryo-derived stem cell lines, 71 Ramirez-Solis, 1993, Gene targeting in embryonic stem cells, Methods Enzymol, 225, 855, 10.1016/0076-6879(93)25054-6 Bradley, 1987, Production and analysis of chimaeric mice, 113 Choi, 1993, Transgenic mice containing a human heavy chain immunoglobulin gene fragment cloned in a yeast artificial chromosome, Nature Genet, 4, 117, 10.1038/ng0693-117 Lamb, 1993, Introduction and expression of the 400 kilobase amyloid precursor protein gene in transgenic mice, Nature Genet, 5, 22, 10.1038/ng0993-22 Strauss, 1993, Germ-line transmission of a yeast artificial chromosome spanning the murine α1(l)Collagen locus, Science, 259, 1904, 10.1126/science.8096090 Pearson, 1993, Expression of the human β-amyloid precursor protein gene from a yeast artificial chromosome in transgenic mice, Proc Natl Acad Sci USA, 90, 10578, 10.1073/pnas.90.22.10578 Jakobovits, 1993, Germ-line transmission and expression of a human-derived yeast artificial chromosome, Nature, 362, 255, 10.1038/362255a0 Green, 1994, Antigen-specific human monoclonal antibodies from mice engineered with human 1g heavy and light chain YACs, Nature Genet, 7, 13, 10.1038/ng0594-13 Davies, 1993, Creation of mice expressing human antibody light chains by introduction of a yeast artificial chromosome containing the core region of the human immunoglobulin κ locus, Biotechnology, 11, 911, 10.1038/nbt0893-911 Jakobovits, 1994, Humanizing the mouse genome, Curr Biol, 4, 761, 10.1016/S0960-9822(00)00172-X Peterson, 1993, Transgenic mice containing a 248-kb yeast artificial chromosome carrying the human β-globin locus display proper developmental control of human globin genes, Proc Natl Acad Sci USA, 90, 7593, 10.1073/pnas.90.16.7593 Gaensler, 1993, Germ-line transmission and developmental regulation of a 150-kb yeast artificial chromosome containing the human β-globin locus in transgenic mice, Proc Natl Acad Sci USA, 90, 11381, 10.1073/pnas.90.23.11381 Schedl, 1993, A yeast artificial chromosome covering the tyrosinase gene confers copy number-dependent expression in transgenic mice, Nature, 362, 258, 10.1038/362258a0 Schedl, 1992, Transgenic mice generated by pronuclear injection of a yeast artificial chromosome, Nucleic Acids Res, 20, 3073, 10.1093/nar/20.12.3073 Schedl, 1993, A method for the generation of YAC transgenic mice by pronuclear microinjection, Nucleic Acids Res, 21, 4783, 10.1093/nar/21.20.4783 Montoliu, 1993, Generation of transgenic mice with yeast artificial chromosomes, Cold Spring Harb Symp Quant Biol, 58, 55, 10.1101/SQB.1993.058.01.009 Max, 1989, Immunoglobulins: molecular genetics, 235 Pragna, 1994, Charcot—Marie—Tooth disease: a new paradigm for the mechanism of inherited disease, Trends Genet, 10, 128, 10.1016/0168-9525(94)90214-3 Epstein, 1986 Glenner, 1984, Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein, Biochem Biophys Res Commun, 120, 885, 10.1016/S0006-291X(84)80190-4 Goldgaber, 1987, Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease, Science, 235, 877, 10.1126/science.3810169 Kang, 1987, The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor, Nature, 325, 733, 10.1038/325733a0 Tanzi, 1987, Amyloid β protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus, Science, 235, 880, 10.1126/science.2949367 Buxbaum, 1993, Expression of APP in brains of transgenic mice containing the entire human APP gene, Biochem Biophys Res Commun, 197, 639, 10.1006/bbrc.1993.2527 Chartier-Harlin, 1991, Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene, Nature, 353, 844, 10.1038/353844a0 Goate, 1991, Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease, Nature, 349, 704, 10.1038/349704a0 Mullan, 1992, A pathogenetic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of β-amyloid, Nature Genet, 1, 345, 10.1038/ng0892-345 Murrell, 1991, A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease, Science, 254, 97, 10.1126/science.1925564 Duff, 1994, Insertion of a pathogenic mutation into a yeast artificial chromosome containing the human amyloid precursor protein gene, Gene Therapy, 1, 70 1993, A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes, Cell, 72, 971, 10.1016/0092-8674(93)90585-E Dietz, 1991, Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene, Nature, 352, 337, 10.1038/352337a0 Lovett, 1994, Fishing for complements: finding gene by direct selection, Trends Genet, 10, 352, 10.1016/0168-9525(94)90131-7 Church, 1994, Isolation of genes from complex sources of mammalian genomic DNA using exon amplification, Nature Genet, 6, 98, 10.1038/ng0194-98 Jackson, 1990, Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant, Proc Natl Acad Sci USA, 87, 7010, 10.1073/pnas.87.18.7010 Shibahara, 1990, A point mutation in the tyrosinase gene of BALB/c albino mouse causing the cysteine-serine substitution at position 85, Eur J Biochem, 189, 455, 10.1111/j.1432-1033.1990.tb15510.x Yokoyama, 1990, Conserved cysteine to serine mutation in tyrosinase is responsible for the classical albino mutation in laboratory mice, Nucleic Acids Res, 18, 7293, 10.1093/nar/18.24.7293 Crossley, 1993, Regulation of the β-globin locus, Curr Opin Genet Dev, 3, 232, 10.1016/0959-437X(93)90028-N Rastan, 1994, X chromosome inactivation and the Xist gene, Curr Opin Genet Dev, 4, 292, 10.1016/S0959-437X(05)80056-5 Brown, 1991, A gene from the region of the human X-inactivation centre is expressed exclusively from the inactive X chromosome, Nature, 349, 38, 10.1038/349038a0 Frazer, 1995, The apolipoprotein(a) gene is regulated by sex hormone and acute-phase inducers in YAC transgenic mice, Nature Genet, 9, 424, 10.1038/ng0495-424 Smith, 1995, Construction of a contiguous 2 Mb YAC/P1 library of human chromosome 21q22.2 in transgenic mice, Genomics, 10.1006/geno.1995.1073