Human genome anatomy: BACs integrating the genetic and cytogenetic maps for bridging genome and biomedicine
| Autor: | Bruce W. Birren, Sebastian S. Gerety, Irina S. Zemsteva, James Silva, Jean Weissenbach, Lester Hui, Shaowu Ma, Zheng Yang Shi, Xiaoyun Wu, Eddy Vataru, Dean Yimlamai, Melvin I. Simon, Huy Nguyen, Zhiguang Sun, Julie R. Korenberg, Hiroaki Shizuya, Thomas J. Hudson, Xiao Ning Chen |
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| Rok vydání: | 1999 |
| Předmět: |
Yeast artificial chromosome
Resource Computational biology Biology Genome DNA sequencing Gene mapping Genetics medicine Humans Genetics (clinical) In Situ Hybridization Fluorescence Sequence Tagged Sites Bacterial artificial chromosome medicine.diagnostic_test Models Genetic Genome Human Chromosomes Human Pair 11 Chromosome Mapping Reproducibility of Results Genome project Chromosomes Bacterial Physical Chromosome Mapping Human genome Fluorescence in situ hybridization |
| Zdroj: | Genome research. 9(10) |
| ISSN: | 1088-9051 |
| Popis: | Human genome sequencing is accelerating rapidly. Multiple genome maps link this sequence to problems in biology and clinical medicine. Because each map represents a different aspect of the structure, content, and behavior of human chromosomes, these fundamental properties must be integrated with the genome to understand disease genes, cancer instability, and human evolution. Cytogenetic maps use 400–850 visible band landmarks and are the primary means for defining prenatal defects and novel cancer breakpoints, thereby providing simultaneous examination of the entire genome. Recent genetic, physical, and transcript maps use PCR-based landmarks called sequence-tagged sites (STSs). We have integrated these genome maps by anchoring the human cytogenetic to the STS-based genetic and physical maps with 1021 STS–BAC pairs at an average spacing of ∼1 per 3 Mb. These integration points are represented by 872 unique STSs, including 642 polymorphic markers and 957 bacterial artificial chromosomes (BACs), each of which was localized on high resolution fluorescent banded chromosomes. These BACs constitute a resource that bridges map levels and provides the tools to seamlessly translate questions raised by genomic change seen at the chromosomal level into answers based at the molecular level. We show how the BACs provide molecular links for understanding human genomic duplications, meiosis, and evolution, as well as reagents for conducting genome-wide prenatal diagnosis at the molecular level and for detecting gene candidates associated with novel cancer breakpoints. |
| Databáze: | OpenAIRE |
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