A high-resolution annotated physical map of the human chromosome 13q12-13 region containing the breast cancer susceptibility locus BRCA2

Proc Natl Acad Sci U S A. 1996 Jan 23;93(2):690-4. doi: 10.1073/pnas.93.2.690.

Abstract

Various types of physical mapping data were assembled by developing a set of computer programs (Integrated Mapping Package) to derive a detailed, annotated map of a 4-Mb region of human chromosome 13 that includes the BRCA2 locus. The final assembly consists of a yeast artificial chromosome (YAC) contig with 42 members spanning the 13q12-13 region and aligned contigs of 399 cosmids established by cross-hybridization between the cosmids, which were selected from a chromosome 13-specific cosmid library using inter-Alu PCR probes from the YACs. The end sequences of 60 cosmids spaced nearly evenly across the map were used to generate sequence-tagged sites (STSs), which were mapped to the YACs by PCR. A contig framework was generated by STS content mapping, and the map was assembled on this scaffold. Additional annotation was provided by 72 expressed sequences and 10 genetic markers that were positioned on the map by hybridization to cosmids.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • BRCA2 Protein
  • Base Sequence
  • Breast Neoplasms / genetics*
  • Chromosome Mapping / methods*
  • Chromosomes, Artificial, Yeast / genetics
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromosomes, Human, Pair 13 / ultrastructure
  • Cosmids / genetics
  • DNA, Complementary / genetics
  • Disease Susceptibility
  • Female
  • Gene Expression
  • Humans
  • In Situ Hybridization, Fluorescence
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics*
  • Oligonucleotide Probes
  • Polymerase Chain Reaction
  • Repetitive Sequences, Nucleic Acid
  • Selection, Genetic
  • Software*
  • Transcription Factors / genetics*

Substances

  • BRCA2 Protein
  • DNA, Complementary
  • Neoplasm Proteins
  • Oligonucleotide Probes
  • Transcription Factors