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Updated: Aug 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Functional replacement of Drosophila Btk29A with human Btk in male genital development and survival
Noriko Hamada1, Carl-Magnus Bäckesjö, C I Edvard Smith
1Laboratory of Genetics, Waseda University, 2-7-5, Higashi-Fushimi, Nishi-Tokyo,Tokyo 202-0021, Japan.
Abstract:
Drosophila type 2 Btk29A reveals the highest homology to Btk among mammalian Tec kinases. In Btk29A(ficP) mutant males, the apodeme holding the penis split into two pieces. Human Btk rescued this phenotype in 39% of Btk29A(ficP) males, while the Drosophila transgenes did so in 90-100% of mutants. The Btk29A(ficP) mutation reduced adult longevity to 11% that of wild-type. This effect was counteracted by Drosophila type 2, yielding 76% of the wild-type lifespan. Human Btk extended the lifespan of Btk29A(ficP) mutants only to 20% that of wild-type. Thus human Btk can partially replace Drosophila Btk29A+ in male genital development and survival.
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