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Gene: TUBA8     tubulin, alpha 8Homo sapiens
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High impact information on TUBA8

  • A genomic DNA sequence from the chromosomal region 22q11 allowed us to determine the complete structure of the TUBA8 gene that mirrors the canonical exon/intron organization of the vertebrate alpha-tubulin genes [1].
  • We have cloned and sequenced a cDNA from a human adult skeletal muscle cDNA library, encoding for a novel isoform of alpha-tubulin (tuba8) that is preferentially expressed in heart, skeletal muscle, and testis [1].
  • The sequence peculiarity of the human and murine tuba8 strongly suggests that they might have functional significance and, according to the multi-tubulin hypothesis, that they might play specific functional roles in the cell cytoskeleton [1].
  • CPNE8, PRICKLE1, Q6ZUQ4 and TUBA8 were mapped to the interval for pig AMC between microsatellites SW152 and SW904 [2].
  • Three SNPs in TUBA8 co-segregated with the AMC phenotype in 230 pigs of our research population without recombination and could be used as a genetic marker test for AMC [2].

References

  1. TUBA8: A new tissue-specific isoform of alpha-tubulin that is highly conserved in human and mouse. Stanchi, F., Corso, V., Scannapieco, P., Ievolella, C., Negrisolo, E., Tiso, N., Lanfranchi, G., Valle, G. Biochem. Biophys. Res. Commun. (2000)
  2. Radiation hybrid mapping of 18 positional and physiological candidate genes for arthrogryposis multiplex congenita on porcine chromosome 5. Genini, S., Nguyen, T.T., Malek, M., Talbot, R., Gebert, S., Rohrer, G., Nonneman, D., Stranzinger, G., Vögeli, P. Anim. Genet. (2006)