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Mouse strain-specific coding polymorphism in the Slc4a2/Ae2 gene encodes Ae2c2 variants differing in isoform-specific

Christine E Kurschat¹, Boris E Shmukler, Lianwei Jiang

¹Molecular and Vascular Medicine and Renal Units, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA 02215, USA.

Experimental Physiology

|January 15, 2008

Summary

Mouse strain differences in the Slc4a2/Ae2 gene create novel Ae2c2 variants. These variants show low function and varied dominant-negative effects, impacting the interpretation of mouse phenome project data.

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Area of Science:

Molecular Biology
Genetics
Physiology

Background:

The Slc4a2/Ae2 gene generates multiple protein isoforms through alternative promoter use.
The Ae2c promoter in mice and rats produces two transcripts (Ae2c1, Ae2c2), unlike humans.

Purpose of the Study:

To investigate the functional consequences of strain-specific polymorphisms in the mouse Ae2c2 transcript.
To characterize the function and interactions of novel Ae2c2 polypeptide variants.

Main Methods:

Analysis of alternatively spliced Ae2c transcripts in mouse and rat.
Expression and functional assessment of Ae2c2 variants in Xenopus oocytes and HEK-293 cells.
Coexpression studies to evaluate dominant-negative effects on other Ae2 variants.

Main Results:

Mouse Ae2c2 transcripts encode a novel polypeptide with strain-specific residue 9 variations (proline or serine).
Both Ae2c2 variants exhibit low functional activity and reduced surface expression.
Ae2c2S demonstrates dominant-negative effects on Ae2a and other variants, while Ae2c2P does not.

Conclusions:

Strain-specific coding polymorphisms in Ae2c2 can significantly alter protein function and interactions.
Understanding these variations is crucial for interpreting strain-specific phenotypes in mouse models.
This research highlights the importance of genetic background in functional studies.