Exploration of CAG Triplet Repeat in Nontranslated Region of SCA12 Gene

Overview

Journal J Genet

Specialty Genetics

Date 2016 Jun 29

PMID 27350687

Citations 3

Authors

Waseem Gul Lone

Imran Ali Khan

Subhadra Poornima

Noor Ahmad Shaik

Angmuthu Kanikannan Meena

Kaipa Prabhakar Rao

Qurratulain Hasan

Affiliations

Soon will be listed here.

Citing Articles

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.

Sharma P, Sonakar A, Tyagi N, Suroliya V, Kumar M, Kutum R Adv Genet (Hoboken). 2023; 3(2):2100078.

PMID: 36618024 PMC: 9744545. DOI: 10.1002/ggn2.202100078.

Between Interactions and Aggregates: The PolyQ Balance.

Mier P, Andrade-Navarro M Genome Biol Evol. 2021; 13(11).

PMID: 34791220 PMC: 8763233. DOI: 10.1093/gbe/evab246.

An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.

Chintalaphani S, Pineda S, Deveson I, Kumar K Acta Neuropathol Commun. 2021; 9(1):98.

PMID: 34034831 PMC: 8145836. DOI: 10.1186/s40478-021-01201-x.

References

Chen C, Hou Y, Liu J, Wu Y, Lin C, Fung H . PPP2R2B CAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional implications. Am J Med Genet B Neuropsychiatr Genet. 2008; 150B(1):124-9. DOI: 10.1002/ajmg.b.30785. View

Bahl S, Ahmed I, Mukerji M . Utilizing linkage disequilibrium information from Indian Genome Variation Database for mapping mutations: SCA12 case study. J Genet. 2009; 88(1):55-60. DOI: 10.1007/s12041-009-0007-0. View

Lone W, Poornima S, Meena A, Prabhakar Rao K, Hasan Q . Role of dynamic and mitochondrial mutations in neurodegenerative diseases with ataxia: lower repeats and LNAs at multiple loci as alternative pathogenesis. J Mol Neurosci. 2014; 54(4):837-47. DOI: 10.1007/s12031-014-0431-3. View

Holmes S, OHearn E, McInnis M, Kleiderlein J, Callahan C, Kwak N . Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet. 1999; 23(4):391-2. DOI: 10.1038/70493. View

Martindale J, Seneca S, Wieczorek S, Sequeiros J . Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations. Hum Mutat. 2012; 33(9):1359-65. DOI: 10.1002/humu.22156. View

Cho J, Kim S, Park S, Jeon B . Spinocerebellar ataxia type 12 was not found in Korean Parkinsonian patients. Can J Neurol Sci. 2008; 35(4):488-90. DOI: 10.1017/s0317167100009161. View

Stevanin G, Durr A, Brice A . Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet. 2000; 8(1):4-18. DOI: 10.1038/sj.ejhg.5200403. View

van de Warrenburg B, Sinke R, Verschuuren-Bemelmans C, Scheffer H, Brunt E, Ippel P . Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology. 2002; 58(5):702-8. DOI: 10.1212/wnl.58.5.702. View

OHearn E, Holmes S, Margolis R . Spinocerebellar ataxia type 12. Handb Clin Neurol. 2011; 103:535-47. DOI: 10.1016/B978-0-444-51892-7.00034-6. View

10.

Srivastava A, Choudhry S, Gopinath M, Roy S, Tripathi M, Brahmachari S . Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol. 2002; 50(6):796-800. DOI: 10.1002/ana.10048. View

11.

Goldberg Y, Kremer B, Andrew S, Theilmann J, Graham R, Squitieri F . Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet. 1993; 5(2):174-9. DOI: 10.1038/ng1093-174. View

12.

Ali Khan I, Shaik N, Kamineni V, Jahan P, Hasan Q, Rao P . Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations. Front Pediatr. 2015; 3:34. PMC: 4419678. DOI: 10.3389/fped.2015.00034. View

13.

Faruq M, Scaria V, Singh I, Tyagi S, Srivastava A, Mukerji M . SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias. Hum Mutat. 2009; 30(7):1037-42. DOI: 10.1002/humu.21006. View

14.

Deutsch S, Rosse R, Lakshman R . Dysregulation of tau phosphorylation is a hypothesized point of convergence in the pathogenesis of alzheimer's disease, frontotemporal dementia and schizophrenia with therapeutic implications. Prog Neuropsychopharmacol Biol Psychiatry. 2006; 30(8):1369-80. DOI: 10.1016/j.pnpbp.2006.04.007. View

15.

Mor-Cohen R, Magal N, Gadoth N, Shohat T, Shohat M . Correlation between the incidence of myotonic dystrophy in different groups in Israel and the number of CTG trinucleotide repeats in the myotonin gene. Am J Med Genet. 1997; 71(2):156-9. DOI: 10.1002/(sici)1096-8628(19970808)71:2<156::aid-ajmg7>3.0.co;2-w. View

16.

Fujigasaki H, Verma I, Camuzat A, Margolis R, Zander C, Lebre A . SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann Neurol. 2001; 49(1):117-21. View

17.

Goldman A, Ramsay M, Jenkins T . Ethnicity and myotonic dystrophy: a possible explanation for its absence in sub-Saharan Africa. Ann Hum Genet. 1996; 60(1):57-65. DOI: 10.1111/j.1469-1809.1996.tb01172.x. View

18.

Brussino A, Graziano C, Giobbe D, Ferrone M, Dragone E, Arduino C . Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia. Mov Disord. 2010; 25(9):1269-73. DOI: 10.1002/mds.22835. View

19.

Silveira I, Miranda C, Guimaraes L, Moreira M, Alonso I, Mendonca P . Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol. 2002; 59(4):623-9. DOI: 10.1001/archneur.59.4.623. View

20.

Squitieri F, Andrew S, Goldberg Y, Kremer B, Spence N, Zeisler J . DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet. 1994; 3(12):2103-14. DOI: 10.1093/hmg/3.12.2103. View