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Fig. 1 | Molecular Neurodegeneration

Fig. 1

From: Tauopathies: new perspectives and challenges

Fig. 1

MAPT pathological mutations in exons, haplotypes, and alternative splicing. MAPT (microtubule associated protein tau) gene, located on chromosome 17q21.3, has been identified with over 100 mutations, and pathological mutations associated with increased risk for tauopathies are shown above. The difference between H1 and H2 haplotypes is a 900 kb inversion existing in the largest linkage disequilibrium (LD) area in chromosome 17. Besides, H1 and its various sub-haplotypes usually contribute to disease occurrence, while H2 haplotype often act as a protective factor. Alternative splicing is common in neuronal cells which help to increase genetic plasticity and the diversity of proteome under physiological conditions [6]. However, imbalance in the ratio of the 3R and 4R isoforms can give rise to the pathogenesis of tauopathies, as the 4R tau is more efficient in promoting microtubule assembly with an extra repeat domain R2 which hyper-stabilize MT and more free-floating tau leads to aggregates formation [3, 6, 7]

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