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Carboxyl ester lipase: a highly polymorphic locus on human chromosome 9qter
A K Taylor1, J L Zambaux, I Klisak
1Department of Medicine, University of California, Los Angeles 90024.
Genomics
|June 1, 1991
Summary
The Carboxyl ester lipase (CEL) gene, crucial for lipid metabolism, has been mapped to human chromosome 9. This gene shows significant genetic variation, impacting lipid processing.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- Carboxyl ester lipase (CEL) is essential for hydrolyzing dietary cholesterol esters and other esters in pancreatic juice.
- Understanding the genetic control of lipid metabolism involves studying key enzymes like CEL.
Purpose of the Study:
- To determine the chromosomal location of the human CEL gene.
- To investigate the role of CEL in the genetic control of lipid metabolism.
- To analyze the polymorphism of the CEL locus.
Main Methods:
- Chromosomal mapping using mouse-human somatic cell hybrids.
- In situ hybridization to human chromosomes.
- Analysis of chromosome 9 translocations to refine gene positioning.
- DNA analysis to assess locus polymorphism.
Main Results:
- The human CEL gene was mapped to the distal long arm of chromosome 9.
- The CEL locus was precisely positioned relative to known genetic markers on chromosome 9.
- The CEL locus was found to be highly polymorphic, featuring a hypervariable insertion/deletion region.
Conclusions:
- The precise localization of the CEL gene on chromosome 9 provides a basis for further genetic studies.
- The high degree of polymorphism in the CEL locus suggests its potential role in variations of lipid metabolism.
- Further research into CEL's function and genetic variations can elucidate its impact on human health and disease.