Related Experiment Video
Updated: Jul 18, 2026
12:42
Fluorescence-microscopy Screening and Next-generation Sequencing: Useful Tools for the Identification of Genes Involved in Organelle Integrity
Published on: April 13, 2012
Gene-based sequence-tagged-sites (STSs) as the basis for a human gene map
R Berry1, T J Stevens, N A Walter
1Department of Pharmacology, University of Colorado Health Sciences Center, Denver 80262, USA.
Nature Genetics
|August 1, 1995
Summary
Researchers mapped 308 human genes using sequence-tagged-sites (STSs) from cDNA. This strategy identified 92 candidate genes in regions linked to human genetic diseases, aiding genomic research.
Area of Science:
- Human genomics
- Molecular biology
- Genetic mapping
Background:
- Accurate human gene mapping is crucial for understanding genetic diseases.
- Existing methods for gene mapping can be time-consuming and resource-intensive.
- The 3' untranslated regions (3' UTRs) of cDNAs offer unique identifiers for genes.
Purpose of the Study:
- To develop and implement a rapid strategy for regional gene mapping using human brain cDNA sequences.
- To identify candidate genes associated with human genetic diseases through precise genomic localization.
- To establish a foundation for comprehensive gene mapping of the human genome.
Main Methods:
- Utilized a dataset of 3,143 single-pass sequences from human brain cDNA libraries.
- Developed gene-based sequence-tagged-sites (STSs) from the 3' UTRs of human cDNAs.
- Assigned STSs to megabase-insert yeast artificial chromosomes and somatic cell hybrids for regional mapping.
Main Results:
- Successfully mapped 318 cDNAs, representing 308 distinct human genes.
- Identified 92 of these genes located in chromosomal regions associated with human genetic disorders.
- Demonstrated the efficiency of the STS-based strategy for generating regional gene mapping data.
Conclusions:
- The developed STS strategy provides a rapid and effective method for regional human gene mapping.
- This approach significantly aids in identifying candidate genes for genetic diseases.
- The strategy has the potential to create a comprehensive genomic map where each gene is linked to a specific STS and genomic location.
Related Concept Videos
01:17Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
03:36Genome Annotation and Assembly
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.