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Title: Toward a cDNA map of the human genome

Abstract

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 showedmore » 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.« less

Authors:
;  [1]; ;  [2]
  1. Cedars-Sinai Research Institute, Los Angeles, CA (United States)
  2. Institute for Genomic Research, Gaithersburg, MD (United States)
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
258274
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 29; Journal Issue: 2; Other Information: PBD: 20 Sep 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; 44 INSTRUMENTATION, INCLUDING NUCLEAR AND PARTICLE DETECTORS; GENETIC MAPPING; RESOLUTION; HUMAN CHROMOSOMES; GENES; DNA SEQUENCING; DNA-CLONING; TRANSCRIPTION; HEREDITARY DISEASES; DNA HYBRIDIZATION; COST; SENSITIVITY; EFFICIENCY; PHOSPHOTRANSFERASES; DNA; FLUORESCENCE; BANDING TECHNIQUES; CONTIGS; PROBES

Citation Formats

Korenberg, J R, Chen, X N, Adams, M D, and Venter, J C. Toward a cDNA map of the human genome. United States: N. p., 1995. Web. doi:10.1006/geno.1995.9993.
Korenberg, J R, Chen, X N, Adams, M D, & Venter, J C. Toward a cDNA map of the human genome. United States. https://doi.org/10.1006/geno.1995.9993
Korenberg, J R, Chen, X N, Adams, M D, and Venter, J C. 1995. "Toward a cDNA map of the human genome". United States. https://doi.org/10.1006/geno.1995.9993.
@article{osti_258274,
title = {Toward a cDNA map of the human genome},
author = {Korenberg, J R and Chen, X N and Adams, M D and Venter, J C},
abstractNote = {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.},
doi = {10.1006/geno.1995.9993},
url = {https://www.osti.gov/biblio/258274}, journal = {Genomics},
number = 2,
volume = 29,
place = {United States},
year = {Wed Sep 20 00:00:00 EDT 1995},
month = {Wed Sep 20 00:00:00 EDT 1995}
}