Literature DB >> 18424220

From 1997 to 2007: a decade journey through the H1 haplotype on 17q21 chromosome.

Kallirhoe Kalinderi1, Liana Fidani, Sevasti Bostantjopoulou.   

Abstract

The H1 haplotype was first identified 10 years ago. Initially, a dinucleotide polymorphism was detected in the tau (MAPT) gene and was subsequently found to be in linkage disequilibrium (LD) with other polymorphisms, forming the MAPT H1 haplotype, a risk factor for many neurological diseases, considered as tauopathies. Genetic and histopathologic data are in agreement that MAPT and its encoded protein have a pivotal role in the normal function of neurons. Currently, the H1 haplotype extends beyond the outer edges of MAPT encompassing multiple genes on chromosome 17 and thus increasing the number of candidate genes implicated in the pathogenesis of tauopathies. This review highlights the milestones and basic events in the journey towards uncovering the significance of the H1 haplotype.

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Year:  2008        PMID： 18424220     DOI： 10.1016/j.parkreldis.2008.03.001

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


  8 in total

1.  Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.

Authors:  Giovanni Coppola; Subashchandrabose Chinnathambi; Jason JiYong Lee; Beth A Dombroski; Matt C Baker; Alexandra I Soto-Ortolaza; Suzee E Lee; Eric Klein; Alden Y Huang; Renee Sears; Jessica R Lane; Anna M Karydas; Robert O Kenet; Jacek Biernat; Li-San Wang; Carl W Cotman; Charles S Decarli; Allan I Levey; John M Ringman; Mario F Mendez; Helena C Chui; Isabelle Le Ber; Alexis Brice; Michelle K Lupton; Elisavet Preza; Simon Lovestone; John Powell; Neill Graff-Radford; Ronald C Petersen; Bradley F Boeve; Carol F Lippa; Eileen H Bigio; Ian Mackenzie; Elizabeth Finger; Andrew Kertesz; Richard J Caselli; Marla Gearing; Jorge L Juncos; Bernardino Ghetti; Salvatore Spina; Yvette M Bordelon; Wallace W Tourtellotte; Matthew P Frosch; Jean Paul G Vonsattel; Chris Zarow; Thomas G Beach; Roger L Albin; Andrew P Lieberman; Virginia M Lee; John Q Trojanowski; Vivianna M Van Deerlin; Thomas D Bird; Douglas R Galasko; Eliezer Masliah; Charles L White; Juan C Troncoso; Didier Hannequin; Adam L Boxer; Michael D Geschwind; Satish Kumar; Eva-Maria Mandelkow; Zbigniew K Wszolek; Ryan J Uitti; Dennis W Dickson; Jonathan L Haines; Richard Mayeux; Margaret A Pericak-Vance; Lindsay A Farrer; Owen A Ross; Rosa Rademakers; Gerard D Schellenberg; Bruce L Miller; Eckhard Mandelkow; Daniel H Geschwind
Journal:  Hum Mol Genet       Date:  2012-05-03       Impact factor: 6.150

Review 2.  Psychosis in Parkinson's Disease: A Lesson from Genetics.

Authors:  Efthalia Angelopoulou; Anastasia Bougea; Sokratis G Papageorgiou; Chiara Villa
Journal:  Genes (Basel)       Date:  2022-06-20       Impact factor: 4.141

3.  The microtubule associated protein tau H1 haplotype and risk of essential tremor.

Authors:  L N Clark; X Liu; N L Parmalee; N Hernandez; E D Louis
Journal:  Eur J Neurol       Date:  2013-12-26       Impact factor: 6.089

Review 4.  Genetic Insights into Alzheimer's Disease.

Authors:  Caitlin S Latimer; Katherine L Lucot; C Dirk Keene; Brenna Cholerton; Thomas J Montine
Journal:  Annu Rev Pathol       Date:  2021-01-24       Impact factor: 23.472

5.  SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population.

Authors:  Luca Trotta; Ilaria Guella; Giulia Soldà; Francesca Sironi; Silvana Tesei; Margherita Canesi; Gianni Pezzoli; Stefano Goldwurm; Stefano Duga; Rosanna Asselta
Journal:  Parkinsonism Relat Disord       Date:  2011-11-21       Impact factor: 4.891

6.  An epigenetic signature in peripheral blood associated with the haplotype on 17q21.31, a risk factor for neurodegenerative tauopathy.

Authors:  Yun Li; Jason A Chen; Renee L Sears; Fuying Gao; Eric D Klein; Anna Karydas; Michael D Geschwind; Howard J Rosen; Adam L Boxer; Weilong Guo; Matteo Pellegrini; Steve Horvath; Bruce L Miller; Daniel H Geschwind; Giovanni Coppola
Journal:  PLoS Genet       Date:  2014-03-06       Impact factor: 5.917

Review 7.  The regulation and deregulation of Wnt signaling by PARK genes in health and disease.

Authors:  Daniel C Berwick; Kirsten Harvey
Journal:  J Mol Cell Biol       Date:  2013-10-09       Impact factor: 6.216

8.  Functional genomics elucidates regulatory mechanisms of Parkinson's disease-associated variants.

Authors:  Rui Chen; Jiewei Liu; Shiwu Li; Xiaoyan Li; Yongxia Huo; Yong-Gang Yao; Xiao Xiao; Ming Li; Xiong-Jian Luo
Journal:  BMC Med       Date:  2022-02-16       Impact factor: 8.775
  8 in total

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