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Chromosome 3q (22-ter) encodes the human transferrin receptor
American Journal of Human Genetics
|July 1, 1983
Summary
The human transferrin receptor gene is located on chromosome 3. This finding was confirmed using cell hybrids and confirmed the receptor
Area of Science:
- Genetics
- Molecular Biology
- Cell Biology
Background:
- The human transferrin receptor (TfR) is a crucial membrane glycoprotein involved in iron uptake.
- Understanding the genetic basis of TfR is essential for cellular iron homeostasis research.
Purpose of the Study:
- To determine the chromosomal location of the human transferrin receptor gene.
- To map the human TfR gene regionally on its respective chromosome.
Main Methods:
- Screening a panel of Chinese hamster-human somatic cell hybrids using a cytotoxicity assay with anti-human TfR antiserum.
- Selecting serum-resistant segregants from TfR-positive hybrids.
- Confirming gene synteny using 125I human transferrin binding studies.
- Analyzing hybrids with translocated or deleted chromosome 3 for regional mapping.
Main Results:
- Chromosome 3 showed the highest concordance with the presence of the human transferrin receptor.
- Selected segregants consistently lost chromosome 3.
- 125I human transferrin binding confirmed synteny between the TfR and chromosome 3.
- Regional mapping of the human TfR gene was localized to 3q(22-ter).
Conclusions:
- The human transferrin receptor gene is located on chromosome 3.
- The functional human transferrin receptor is syntenic with chromosome 3.
- The gene's regional location is identified as 3q(22-ter).