Hasegawa M, Smith M J, Goedert M
Medical Research Council Laboratory of Molecular Biology, Cambridge, UK.
FEBS Lett. 1998 Oct 23;437(3):207-10. doi: 10.1016/s0014-5793(98)01217-4.
Recently exonic and intronic mutations in the gene for microtubule-associated protein tau have been discovered in cases of familial frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Intronic mutations have been shown to lead to an abnormal preponderance of four-repeat tau isoforms. The effects of the exonic mutations are unknown. We report here that the G272V, P301L, V337M and R406W mutations lead to a marked reduction in the ability of tau to promote microtubule assembly. This partial loss-of-function may be the primary effect of the known missense mutations in tau.
最近，在与17号染色体相关的家族性额颞叶痴呆和帕金森综合征（FTDP-17）病例中，发现了微管相关蛋白tau基因的外显子和内含子突变。内含子突变已被证明会导致四重复tau异构体异常占优势。外显子突变的影响尚不清楚。我们在此报告，G272V、P301L、V337M和R406W突变导致tau促进微管组装的能力显著降低。这种部分功能丧失可能是tau中已知错义突变的主要影响。
