Gene: [17q21/MAPT] microtubule-associated protein tau; Alzheimer disease susceptibility locus x?; frontotemporal dementia, with parkinsonism; [MTBT1 A68 ]
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COM |
[1] A Tau-1-like sequence was revealed on the short arm of Chr 6
(GEM:06p21/MAPTL) by chromosomal in situ
hybridization. It was suggested
that the mentioned sequence is a pseudogene since only one Tau-1
functional gene has previously been revealed in human genome. On the
other hand, four or five different tau peptides have been discovered in
biochemical studies.
[2] Some researchers suggest that altered Tau-peptides are possibly responsible for neurofibrillar degenerations in Alzheimer disease (see, for example, Flament-1989, Alonso-1996)." |
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PRO |
The probe p9TAU (Goedert-1988; Goedert-1989) contains a 2.9 kb cDNA fragment cloned at the EcoRI site in a pBR322 plasmid; this probe identifies a 6 kb mRNA in human fetal brain tissue." |
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REF |
PAT "Alonso ADC &: Nature Med, 2, 783-787, 1996 MUT "Clark LN &: PNAS, 95, N22, 13103-13107, 1998 LOC,PRO "Donlon TA &: CCG, 46, (HGM9), N1-4, 607, 1987 PAT,PEP,MEB "Flament &: J Neurol Sci, 92, 133-141, 1989 PRO,SEQ,EXP "Goedert M &: EMBO J, 8, N2, 393-399, 1989 PRO,SEQ,EXP "Goedert M &: PNAS, 85, N11, 4051-4055, 1988 FUN,MOP,MEB "Hirokawa &: J Cell Biol, 107, (Oct), 1449-1459, 1988 MUT "Hutton M &: Nature, 393, N6686, 702-705, 1998 PRO,SEQ,EXP "Lee G &: Neuron, 2, 1615-1624, 1989 PRO,LOC,MOL,FAG "Neve RL &: Mol Brain Res, 1, 271-280, 1986 PAT,PEP,MEB "Nukina &: Neurosci Lett, 87, 240-246, 1988 MUT "Poorkaj P &: Ann Neurol, 43, N6, 815-825, 1998 MUT "Spillantini MG &: PNAS, 95, N13, 7737-7741, 1998 PAT,PEP,MEB "Wischik &: PNAS, 85, N12, 4506-4510, 1988 PAT,PEP,MEB "Wolozin &: PNAS, 85, N16, 6202-6206, 1988 |
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KEY |
neu, cysk |
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CLA |
coding, basic |
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LOC |
17 q21 |
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MIM |
MIM: 157140 |
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SYN |
MTBT1 A68 |
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