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1 Centro de Biología Molecular Severo Ochoa (CSIC-UAM)Madrid, Spain; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII)Madrid, Spain.
1 Centro de Biología Molecular Severo Ochoa (CSIC-UAM)Madrid, Spain; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII)Madrid, Spain.
MAPT gene . A single tau gene located on the human chromosome 17…
Figure 1
MAPT gene. A single tau gene located on the human chromosome 17 is transcribed into the corresponding nuclear RNA that, by alternative splicing, yields several tau mRNAs. (A) Exons are labeled in red numbers. Sth indicates the existence of a DNA sequence encoding the protein saithoin within the intron between exons 9 and 10. ncRNAs MAPT-AS1, MAPT-IT1 and likely LOC105371800 are shown. Light blue boxes: SNP present in MAPT gene; purple boxes: SNP labeled as “probable pathogenic” or “pathogenic”; red and orange boxes: SNPs that genetic association studies have linked to a strong risk to major diseases (Parkinson disease –rs17563986- and progressive supranuclear palsy –rs242557-). Some SNPs used to describe MAPT haplotypes are flanking the SNP here commented on (rs62056842) and are located within that first intron (rs1467967 and rs242557). (B) Allele frequencies of SNP rs192818565 in diverse human populations (rs544990728 in 1000 genomes data base). Data and images have been taken from https://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/.
Okbay A, Beauchamp JP, Fontana MA, Lee JJ, Pers TH, Rietveld CA, Turley P, Chen GB, Emilsson V, Meddens SF, Oskarsson S, Pickrell JK, Thom K, Timshel P, de Vlaming R, Abdellaoui A, Ahluwalia TS, Bacelis J, Baumbach C, Bjornsdottir G, Brandsma JH, Pina Concas M, Derringer J, Furlotte NA, Galesloot TE, Girotto G, Gupta R, Hall LM, Harris SE, Hofer E, Horikoshi M, Huffman JE, Kaasik K, Kalafati IP, Karlsson R, Kong A, Lahti J, van der Lee SJ, deLeeuw C, Lind PA, Lindgren KO, Liu T, Mangino M, Marten J, Mihailov E, Miller MB, van der Most PJ, Oldmeadow C, Payton A, Pervjakova N, Peyrot WJ, Qian Y, Raitakari O, Rueedi R, Salvi E, Schmidt B, Schraut KE, Shi J, Smith AV, Poot RA, St Pourcain B, Teumer A, Thorleifsson G, Verweij N, Vuckovic D, Wellmann J, Westra HJ, Yang J, Zhao W, Zhu Z, Alizadeh BZ, Amin N, Bakshi A, Baumeister SE, Biino G, Bønnelykke K, Boyle PA, Campbell H, Cappuccio FP, Davies G, De Neve JE, Deloukas P, Demuth I, Ding J, Eibich P, Eisele L, Eklund N, Evans DM, Faul JD, Feitosa MF, Forstner AJ, Gandin I, Gunnarsson B, Halldórsson BV, Harris TB, Heath AC, Hocking LJ, Holliday EG, Homuth G, Horan MA, Hottenga JJ, de Jager PL, Joshi PK, Jugessur A, Kaakinen MA, Kähönen M…See abstract for full author list ➔Okbay A, et al.Nature. 2016 May 26;533(7604):539-42. doi: 10.1038/nature17671. Epub 2016 May 11.Nature. 2016.PMID: 27225129Free PMC article.
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