Huntington Disease Phenocopy Is a Familial Prion Disease

Slides:

Advertisements

Similar presentations

Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.

Advertisements

Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites Stacey Bolk, Erik G. Puffenberger,

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.

A Hydrodynamic Model for Hindered Diffusion of Proteins and Micelles in Hydrogels Ronald J. Phillips Biophysical Journal Volume 79, Issue 6, Pages

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,

Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

2015 Alzheimer's disease facts and figures Alzheimer's & Dementia: The Journal of the Alzheimer's Association Volume 11, Issue 3, Pages (March.

How surgeons can find information online? Martin Hewitt International Journal of Surgery Volume 5, Issue 6, Pages (December 2007) DOI: /j.ijsu

The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.

PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

The Trimmed-Haplotype Test for Linkage Disequilibrium

Hyperbaric Oxygenation in Cardiac and Pulmonary Disease

Rapid Molecular Analysis of the STAT3 Gene in Job Syndrome of Hyper-IgE and Recurrent Infectious Diseases Attila Kumánovics, Carl T. Wittwer, Robert.

Quiz Page Answers December 2006

The APC I1307K Allele and BRCA-Associated Ovarian Cancer Risk

P. M. Kelley, D. J. Harris, B. C. Comer, J. W. Askew, T. Fowler, S. D

Common Single-Nucleotide Polymorphisms Act in Concert to Affect Plasma Levels of High-Density Lipoprotein Cholesterol Victor Spirin, Steffen Schmidt,

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.

CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1 Brendan Lee The American Journal of Human Genetics

I. Silveira, I. Alonso, L. Guimarães, P. Mendonça, C. Santos, P

The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy

Ren-Hua Chung, Richard W. Morris, Li Zhang, Yi-Ju Li, Eden R. Martin

Linkage Thresholds for Two-stage Genome Scans

Genetics, Individuality, and Medicine in the 21st Century*

Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations C. Bourgain, E. Génin, P. Holopainen, K.

A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors Bin.

Jong-Min Lee, Kyung-Hee Kim, Aram Shin, Michael J

Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease Alberto Auricchio, Paola.

This Month in AJKD American Journal of Kidney Diseases

Volume 70, Issue 11, Pages (December 2006)

Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E

Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity Blanka Stibůrková,

Guofang Hu, Meltem Önder, Melissa Gill, Burhan Aksakal, Murat Öztas, M

A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder Effect Guofang Hu,

Quiz page December 2004 American Journal of Kidney Diseases

A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters Franco Laccone, Wilhelm Christian The American.

Koji Suzuki, Tania Bustos, Richard A. Spritz

Family-Based Tests of Association in the Presence of Linkage

Minutes of the Board of Directors Meeting

Erratum The American Journal of Human Genetics

A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature.

Benjamin A. Rybicki, Robert C. Elston

Ryan McDaniell, Daniel M. Warthen, Pedro A

Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau

Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information Tasha E. Fingerlin,

Society for Investigative Dermatology 2010 Meeting Minutes

Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia Paola Ciotti, Emilio Di Maria, Emilia Bellone, Franco Ajmar,

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 Catarina M. Quinzii, Tuan H. Vu, K.

Research Snippets Journal of Investigative Dermatology

Reviewer Acknowledgment

Molecular and Clinical Study of 18 Families with ADCA Type II: Evidence for Genetic Heterogeneity and De Novo Mutation P. Giunti, G. Stevanin, P.F. Worth,

Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda Kimberley Morine Ward, Jülide.

This Month in AJKD American Journal of Kidney Diseases

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider,

This Month in AJKD American Journal of Kidney Diseases

Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton

Frequency and Carrier Risk Associated with Common BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Breast Cancer Patients Flora H. Fodor, Ainsley Weston,

Alexandre Irrthum, Marika J

Alice S. Whittemore, Jerry Halpern

Darryl Y. Nishimura, Ruth E. Swiderski, Charles C. Searby, Erik M

Quiz page December 2003 American Journal of Kidney Diseases

This Month in AJKD American Journal of Kidney Diseases

Genomewide Comparison of DNA Sequences between Humans and Chimpanzees

Presentation transcript:

Huntington Disease Phenocopy Is a Familial Prion Disease Richard C. Moore, Fengqing Xiang, Jeffrey Monaghan, Dong Han, Zhiping Zhang, Lars Edström, Maria Anvret, Stanley B. Prusiner The American Journal of Human Genetics Volume 69, Issue 6, Pages 1385-1388 (December 2001) DOI: 10.1086/324414 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Alignment of the wild-type and mutant PrP peptide sequences from a single individual from the HD phenocopy pedigree showing the eight-repeat expansion. The expanded repeats are shown below the wild-type sequence and are numbered according to silent substitutions in the DNA sequences. Wild-type human PrP contains one PQGGGGWGQ nonapeptide (encoded by R1) and four PHGGGWGQ octapeptides (encoded by R2-R4), such that the normal sequence is R1-R2-R2-R3-R4. The mutant allele has eight extra PHGGGWGQ repeats: R1-R2-R2-R3g-R2-R2-R2-R3g-R3g-R2-R2-R3-R4. Both alleles encode methionine at codon 129. The American Journal of Human Genetics 2001 69, 1385-1388DOI: (10.1086/324414) Copyright © 2001 The American Society of Human Genetics Terms and Conditions