Toward a cDNA map of the human genome
- Cedars-Sinai Research Institute, Los Angeles, CA (United States)
- Institute for Genomic Research, Gaithersburg, MD (United States)
Advances in the Human Genome Project are shaping the strategies for identifying the 50,000-100,000 human genes. High-resolution genetic maps of the human genome combined with sequencing herald an era of rapid regional definition of disease genes. However, only once their chromosomes band location is known will the systematic partial sequencing of thousands of random cDNA clones provide the reagents for the rapid assessment of the genes responsible for the inherited disorders. We now present an approach to the rapid determination of map position and therefore to the creation of a transcribed map of the human genome. Sensitive fluorescence in situ hybridization has been combined with high-resolution chromosome banding and random cDNA sequencing to 41 cDNAs with an average insert size of < 2 kb to single human chromosome bands. The results provide 15 new genes, with database and functional information, as candidates for human disease. These include the large extracellular single-related kinase (HUMERK), the ERK activator kinase (PRKMK1), a new member of the RAS oncogene family, protein phosphotase 2 regulatory subunit B alpha isoform (PPP2R2A), and a novel human gene with very high homology to a plant membrane transport family. Further, an analysis of expressed genes associated with pseudogenes showed that by using these techniques, it is possible to detect accurately the transcribed locus within a multigene or processed pseudogene family in most cases. These findings suggest that direct cDNA mapping using fluorescence in situ hybridization provides an accurate and rapid approach to the definition of a transcribed map of the human genome. This low-cost, high-resolution (205 Mb) mapping greatly enhances the speed with which these genes can be subsequently assigned to contigs. This assignment provides a necessary first step in understanding the relationship of the genes to both acquired and inherited human diseases. 16 refs., 1 fig., 3 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 258274
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 29; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
INCLUDING NUCLEAR AND PARTICLE DETECTORS
55 BIOLOGY AND MEDICINE
BASIC STUDIES
BANDING TECHNIQUES
CONTIGS
COST
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
EFFICIENCY
FLUORESCENCE
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOMES
PHOSPHOTRANSFERASES
PROBES
RESOLUTION
SENSITIVITY
TRANSCRIPTION