Sequence-tagged site (STS) content mapping of human chromosomes: theoretical considerations and early experiences.

The magnitude of the effort required to complete the human genome project will require constant refinements of the tools available for the large-scale study of DNA. Such improvements must include both the development of more powerful technologies and the reformulation of the theoretical strategies that account for the changing experimental capabilities. The two technological advances described here, PCR and YAC cloning, have rapidly become incorporated into the standard armamentarium of genome analysis and represent key examples of how technological developments continue to drive experimental strategies in molecular biology. Because of its high sensitivity, specificity, and potential for automation, PCR is transforming many aspects of DNA mapping. Similarly, by providing the means to isolate and study larger pieces of DNA, YAC cloning has made practical the achievement of megabase-level continuity in physical maps. Taken together, these two technologies can be envisioned as providing a powerful strategy for constructing physical maps of whole chromosomes. Undoubtedly, future technological developments will promote even more effective mapping strategies. Nonetheless, the theoretical projections and practical experience described here suggest that constructing YAC-based STS-content maps of whole human chromosomes is now possible. Random STSs can be efficiently generated and used to screen collections of YAC clones, and contiguous YAC coverage of regions exceeding 2 Mb can be readily obtained. While the predicted laboratory effort required for mapping whole human chromosomes remains daunting, it is clearly feasible.

[1]  A. Ciccodicola,et al.  Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28. , 1991, Genomics.

[2]  E. Lander,et al.  Genomic mapping by anchoring random clones: a mathematical analysis. , 1991, Genomics.

[3]  M. Olson,et al.  Detection and characterization of chimeric yeast artificial-chromosome clones. , 1991, Genomics.

[4]  P. Green,et al.  OSP: a computer program for choosing PCR and DNA sequencing primers. , 1991, PCR methods and applications.

[5]  J. Parik,et al.  Capture PCR: efficient amplification of DNA fragments adjacent to a known sequence in human and YAC DNA. , 1991, PCR methods and applications.

[6]  M. Olson,et al.  Systematic generation of sequence-tagged sites for physical mapping of human chromosomes: application to the mapping of human chromosome 7 using yeast artificial chromosomes. , 1991, Genomics.

[7]  R. Waterston,et al.  The human genome project. Prospects and implications for clinical medicine. , 1991, JAMA.

[8]  G. Evans,et al.  Rescue of end fragments of yeast artificial chromosomes by homologous recombination in yeast. , 1991, Nucleic acids research.

[9]  J. McPherson,et al.  Identification of deletion mutations and three new genes at the familial polyposis locus , 1991, Cell.

[10]  S. Altschul,et al.  Identification of FAP locus genes from chromosome 5q21. , 1991, Science.

[11]  J. Ikeda,et al.  Laser microdissection of the fragile X region: identification of cosmid clones and of conserved sequences in this region. , 1991, Genomics.

[12]  D. Schlessinger,et al.  Vectors for inserting selectable markers in vector arms and human DNA inserts of yeast artificial chromosomes (YACs). , 1991, Gene.

[13]  B. Brownstein,et al.  Rapid screening of a YAC library by pulsed-field gel Southern blot analysis of pooled YAC clones. , 1991, Genomics.

[14]  R. Kucherlapati,et al.  Generation of a nested series of interstitial deletions in yeast artificial chromosomes carrying human DNA. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[15]  A. Gnirke,et al.  Cloning and in vivo expression of the human GART gene using yeast artificial chromosomes. , 1991, The EMBO journal.

[16]  D. Bentley,et al.  Generation of novel sequence tagged sites (STSs) from discrete chromosomal regions using Alu-PCR. , 1991, Genomics.

[17]  A. Roche,et al.  A YAC contig across the fragile X site defines the region of fragility. , 1991, Nucleic acids research.

[18]  A. Kerlavage,et al.  Complementary DNA sequencing: expressed sequence tags and human genome project , 1991, Science.

[19]  J. Sutcliffe,et al.  Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome , 1991, Cell.

[20]  A. Ballabio,et al.  Rapid assembly of λ phage contigs within YAC clones , 1991 .

[21]  A. Monaco,et al.  Molecular cloning and analysis of the fragile X region in man. , 1991, Nucleic acids research.

[22]  J. Mandel,et al.  Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome , 1991, Science.

[23]  D. Schlessinger,et al.  Fragile X genotype characterized by an unstable region of DNA , 1991, Science.

[24]  A. Monaco,et al.  Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[25]  J. Ragoussis,et al.  Cloning of the HLA class II region in yeast artificial chromosomes. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[26]  J Dausset,et al.  Theoretical analysis of a physical mapping strategy using random single-copy landmarks. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[27]  D. Schlessinger,et al.  The human HPRT gene on a yeast artificial chromosome is functional when transferred to mouse cells by cell fusion. , 1991, Genomics.

[28]  Detection of homologous recombination between yeast artificial chromosomes with overlapping inserts. , 1991, Nucleic acids research.

[29]  P. Taillon-Miller,et al.  Isolation and characterization of yeast artificial chromosome clones linking the HLA-B and HLA-C loci. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[30]  J. Yu,et al.  Chromosome microdissection and cloning in human genome and genetic disease analysis. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[31]  D. Nelson Interspersed repetitive sequence polymerase chain reaction (IRS PCR) for generation of human DNA fragments from complex sources , 1991 .

[32]  S. Korsmeyer,et al.  Yeast artificial chromosome cloning of a two-megabase-size contig within chromosomal band 18q21 establishes physical linkage between BCL2 and plasminogen activator inhibitor type-2. , 1991, Genomics.

[33]  D. Torney Mapping using unique sequences. , 1991, Journal of molecular biology.

[34]  E. Rose Applications of the polymerase chain reaction to genome analysis , 1991, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[35]  J. Riley,et al.  A yeast artificial chromosome contig encompassing the cystic fibrosis locus. , 1991, Genomics.

[36]  M. Olson,et al.  Preparation of clone libraries in yeast artificial-chromosome vectors. , 1991, Methods in enzymology.

[37]  G. Evans Combinatoric strategies for genome mapping. , 1991, BioEssays : news and reviews in molecular, cellular and developmental biology.

[38]  S. Korsmeyer,et al.  Meiotic recombination between yeast artificial chromosomes yields a single clone containing the entire BCL2 protooncogene. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[39]  A. Feinberg,et al.  Wilms tumor locus on 11p13 defined by multiple CpG island-associated transcripts. , 1990, Science.

[40]  R. Myers,et al.  Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes. , 1990, Science.

[41]  M. Olson,et al.  Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mapping. , 1990, Science.

[42]  M. Olson,et al.  Second-generation approach to the construction of yeast artificial-chromosome libraries. , 1990, Genomics.

[43]  D. Burke YAC cloning: options and problems. , 1990, Genetic analysis, techniques and applications.

[44]  T. Shows,et al.  Somatic cell hybrid and long-range physical mapping of 11p13 microdissected genomic clones. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[45]  W. Pavan,et al.  Modification and manipulation of mammalian DNA cloned as YACs. , 1990, Genetic analysis, techniques and applications.

[46]  D. Nelson Current methods for YAC clone characterization. , 1990, Genetic analysis, techniques and applications.

[47]  W. Pavan,et al.  Modification and transfer into an embryonal carcinoma cell line of a 360-kilobase human-derived yeast artificial chromosome , 1990, Molecular and cellular biology.

[48]  B. Brownstein,et al.  Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. , 1990, Science.

[49]  D. Schlessinger,et al.  Yeast artificial chromosomes containing human Xq24-Xq28 DNA: library construction and representation of probe sequences. , 1990, Genomics.

[50]  D. Le Paslier,et al.  Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[51]  C. Tops,et al.  Vector-Alu PCR: a rapid step in mapping cosmids and YACs. , 1990, Nucleic acids research.

[52]  J. Riley,et al.  A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. , 1990, Nucleic acids research.

[53]  R. Saunders Short cuts for genomic walking: chromosome microdissection and the polymerase chain reaction. , 1990, BioEssays : news and reviews in molecular, cellular and developmental biology.

[54]  J. Riley,et al.  A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage. , 1990, Nucleic acids research.

[55]  C. Dieffenbach,et al.  A computer program for selection of oligonucleotide primers for polymerase chain reactions. , 1990, Nucleic acids research.

[56]  M. Kreitman,et al.  Cloning regions of the Drosophila genome by microdissection of polytene chromosome DNA and PCR with nonspecific primer. , 1990, Nucleic acids research.

[57]  M V Olson,et al.  Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[58]  W. Pavan,et al.  Generation of deletion derivatives by targeted transformation of human-derived yeast artificial chromosomes. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[59]  D H Johnson,et al.  Molecular cloning of DNA from specific chromosomal regions by microdissection and sequence-independent amplification of DNA. , 1990, Genomics.

[60]  G Hermanson,et al.  High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. , 1990, Science.

[61]  S. Antonarakis,et al.  Methods for cloning large DNA segments as artificial chromosomes in S. cerevisiae. , 1990 .

[62]  A. C. Chinault,et al.  Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR. , 1990, Nucleic acids research.

[63]  I. Dunham,et al.  Rapid assessment of S. cerevisiae mating type by PCR. , 1990, Trends in genetics : TIG.

[64]  D. Schlessinger,et al.  Human Xq24-Xq28: approaches to mapping with yeast artificial chromosomes. , 1990, American journal of human genetics.

[65]  D. Schlessinger,et al.  Yeast artificial chromosomes: tools for mapping and analysis of complex genomes. , 1990, Trends in genetics : TIG.

[66]  S. Antonarakis,et al.  Construction of human chromosome 21-specific yeast artificial chromosomes. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[67]  M. Ashburner,et al.  PCR amplification of DNA microdissected from a single polytene chromosome band: a comparison with conventional microcloning. , 1989, Nucleic acids research.

[68]  W. Rychlik,et al.  A computer program for choosing optimal oligonucleotides for filter hybridization, sequencing and in vitro amplification of DNA. , 1989, Nucleic acids research.

[69]  D. Hartl,et al.  Mapping the Drosophila genome with yeast artificial chromosomes. , 1989, Science.

[70]  C. Cantrell,et al.  Rapid colony screening of YAC libraries by using alginate as matrix support. , 1989, Nucleic acids research.

[71]  S. Korsmeyer,et al.  Use of yeast artificial chromosome clones for mapping and walking within human chromosome segment 18q21.3. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[72]  L. Hood,et al.  A common language for physical mapping of the human genome. , 1989, Science.

[73]  J. Riordan,et al.  Identification of the Cystic Fibrosis Gene : Chromosome Walking and Jumping Author ( s ) : , 2008 .

[74]  R. W. Davis,et al.  Rapid screening of a human genomic library in yeast artificial chromosomes for single-copy sequences. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[75]  E. Heard,et al.  An improved method for the screening of YAC libraries. , 1989, Nucleic acids research.

[76]  D. Schlessinger,et al.  Isolation of single-copy human genes from a library of yeast artificial chromosome clones. , 1989, Science.

[77]  C. Tyler-Smith,et al.  Construction of yeast artificial chromosome libraries with large inserts using fractionation by pulsed-field gel electrophoresis. , 1989, Nucleic acids research.

[78]  Bernhard Horsthemke,et al.  Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification , 1989, Nature.

[79]  A. Coulson,et al.  Genome linking with yeast artificial chromosomes , 1988, Nature.

[80]  M. Olson,et al.  Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors. , 1987, Science.

[81]  C. E. Hildebrand,et al.  Construction of human chromosome-specific DNA libraries from flow-sorted chromosomes. , 1986, Cold Spring Harbor symposia on quantitative biology.

[82]  George B. Dantzig,et al.  Linear programming and extensions , 1965 .