Saitohin is a protein that in humans is encoded by the STH gene.[3][4][5] This intronless gene encodes for 128 amino acids in an open reading frame. It is located in the human tau gene, in the intron between exons 9 and 10. Also, a single polymorphism of a nucleotide is seen through a change of glutamine residue 7(Q7R) to arginine.[6] It is found to be susceptible to multiple degenerative diseases, however, the exact function of the gene is still unknown.[7]
References
- ^ a b c ENSG00000281139 GRCh38: Ensembl release 89: ENSG00000256762, ENSG00000281139 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Conrad C, Vianna C, Freeman M, Davies P (May 2002). "A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease". Proc Natl Acad Sci U S A. 99 (11): 7751–6. Bibcode:2002PNAS...99.7751C. doi:10.1073/pnas.112194599. PMC 124341. PMID 12032355.
- ^ Gao L, Tse SW, Conrad C, Andreadis A (Nov 2005). "Saitohin, which is nested in the tau locus and confers allele-specific susceptibility to several neurodegenerative diseases, interacts with peroxiredoxin 6". J Biol Chem. 280 (47): 39268–72. doi:10.1074/jbc.M506116200. PMID 16186110.
- ^ "Entrez Gene: STH saitohin".
- ^ Conrad C, Vianna C, Freeman M, Davies P (May 2002). "A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease". Proc Natl Acad Sci U S A. 99 (11): 7751–6. Bibcode:2002PNAS...99.7751C. doi:10.1073/pnas.112194599. PMC 124341. PMID 12032355.
- ^ Gao L, Tse SW, Conrad C, Andreadis A (Nov 2005). "Saitohin, which is nested in the tau locus and confers allele-specific susceptibility to several neurodegenerative diseases, interacts with peroxiredoxin 6". J Biol Chem. 280 (47): 39268–72. doi:10.1074/jbc.M506116200. PMID 16186110.
Further reading
- Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
- Cook L, Brayne CE, Easton D, et al. (2002). "No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's disease". Ann. Neurol. 52 (5): 690–1. doi:10.1002/ana.10362. PMID 12402275. S2CID 37700445.
- Verpillat P, Ricard S, Hannequin D, et al. (2002). "Is the saitohin gene involved in neurodegenerative diseases?". Ann. Neurol. 52 (6): 829–32. doi:10.1002/ana.10384. PMID 12447938. S2CID 35687241.
- Zekanowski C, Pepłońska B, Styczyńska M, et al. (2003). "Mutation screening of the MAPT and STH genes in Polish patients with clinically diagnosed frontotemporal dementia". Dementia and Geriatric Cognitive Disorders. 16 (3): 126–31. doi:10.1159/000070999. PMID 12826737. S2CID 24166927.
- Combarros O, Rodero L, Infante J, et al. (2003). "Age-dependent association between the Q7R polymorphism in the Saitohin gene and sporadic Alzheimer's disease". Dementia and Geriatric Cognitive Disorders. 16 (3): 132–5. doi:10.1159/000071000. PMID 12826738. S2CID 42452606.
- de Silva R, Hope A, Pittman A, et al. (2004). "Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy". Neurology. 61 (3): 407–9. doi:10.1212/01.wnl.0000073140.25533.90. PMID 12913211. S2CID 38636041.
- Pepłońska B, Zekanowski C, Religa D, et al. (2003). "Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population". Neurosci. Lett. 348 (3): 163–6. doi:10.1016/S0304-3940(03)00788-2. PMID 12932819. S2CID 10736456.
- Johansson A, Zetterberg H, Håkansson A, et al. (2006). "TAU haplotype and the Saitohin Q7R gene polymorphism do not influence CSF Tau in Alzheimer's disease and are not associated with frontotemporal dementia or Parkinson's disease". Neuro-Degenerative Diseases. 2 (1): 28–35. doi:10.1159/000086428. PMID 16909000. S2CID 6644618.