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Whale Hageman factor (factor XII): prevented production due to pseudogene conversion
1Department of Clinical Laboratory Medicine, School of Medicine, Kumamoto University, Honjo, Japan.
Thrombosis Research
|July 25, 1998
Summary
Whale Hageman factor gene has been converted into a pseudogene, preventing protein production. This genetic pseudogene formation was confirmed through DNA sequencing and gene expression analysis in whales.
Area of Science:
- Genomics
- Molecular Biology
- Marine Mammal Genetics
Background:
- The Hageman factor plays a crucial role in the intrinsic pathway of blood coagulation.
- Understanding gene function and evolution in marine mammals provides insights into their adaptation.
Purpose of the Study:
- To investigate the Hageman factor gene in whales.
- To determine if the whale Hageman factor gene is functional.
- To compare whale Hageman factor gene sequences with other mammals.
Main Methods:
- Southern blot analysis of whale genomic DNA.
- Polymerase chain reaction (PCR) amplification and sequencing of whale Hageman factor gene segments.
- Northern blot analysis and reverse transcription-polymerase chain reaction (RT-PCR) for gene expression analysis.
Main Results:
- A single band hybridized to guinea pig Hageman factor cDNA in Southern blot analysis.
- Sequencing revealed two nonsense mutations and a single nucleotide insertion, causing a reading frame shift in the whale Hageman factor gene.
- No Hageman factor gene expression was detected via Northern blot or RT-PCR.
Conclusions:
- The whale Hageman factor gene has been converted to a pseudogene, inhibiting protein production.
- The deduced amino acid sequence shows the highest homology to bovine Hageman factor among analyzed land mammals.