Mutational analysis within the 3′ region of the PKD1 gene

Slides:

Advertisements

Similar presentations

Keyur P. Patel, Bedia A. Barkoh, Zhao Chen, Deqin Ma, Neelima Reddy, L

Advertisements

Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations Ulla Lenkkeri, Minna Männikkö,

Performance Evaluation of the TheraTyper-GJB2 Assay for Detection of GJB2 Gene Mutations Ji-Yong Chun, Soo-Kyung Shin, Kyung Tae Min, Woojae Cho, Jaeil.

Identification of EpCAM as the Gene for Congenital Tufting Enteropathy

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton,

Volume 75, Issue 8, Pages (April 2009)

Volume 74, Issue 11, Pages (December 2008)

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant.

Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next- Generation Sequencing Adrian Y. Tan, Alber Michaeel, Genyan Liu, Olivier.

Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Underlying Glycogenosis Type VI (Hers Disease) Barbara Burwinkel, Henk D. Bakker, Eliezer Herschkovitz,

DNA Diagnostics by Surface-Bound Melt-Curve Reactions

Long-Range (17.7 kb) Allele-Specific Polymerase Chain Reaction Method for Direct Haplotyping of R117H and IVS-8 Mutations of the Cystic Fibrosis Transmembrane.

Volume 63, Issue 1, Pages (January 2003)

Performance Evaluation of the TheraTyper-GJB2 Assay for Detection of GJB2 Gene Mutations Ji-Yong Chun, Soo-Kyung Shin, Kyung Tae Min, Woojae Cho, Jaeil.

Andrea Gaedigk, Amanda K. Riffel, J. Steven Leeder

Volume 54, Issue 3, Pages (September 1998)

Volume 20, Issue 12, Pages (June 2010)

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3 Tarja Joensuu, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara.

Volume 56, Issue 4, Pages (October 1999)

Volume 58, Issue 4, Pages (October 2000)

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

Molecular Characterization of WFS1 in Patients with Wolfram Syndrome

Analysis of Rare APC Variants at the mRNA Level

Keyur P. Patel, Bedia A. Barkoh, Zhao Chen, Deqin Ma, Neelima Reddy, L

Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family Naoyuki Kariya, Yutaka Shimomura, Masaaki Ito

Peter Ianakiev, Michael W

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis

Volume 65, Issue 6, Pages (June 2004)

Complex Role of TNF Variants in Psoriatic Arthritis and Treatment Response to Anti- TNF Therapy: Evidence and Concepts Ulrike Hüffmeier, Rotraut Mössner

The β-Globin Recombinational Hotspot Reduces the Effects of Strong Selection around HbC, a Recently Arisen Mutation Providing Resistance to Malaria Elizabeth.

Volume 54, Issue 5, Pages (November 1998)

Targeted disruption of the mouse Pex14 gene.

A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q Donna S. Mackay, Olivera B. Boskovska, Harry.

Ala16Val SOD2 polymorphism is associated with higher pregnancy rates in in vitro fertilization cycles José Ignacio Ruiz-Sanz, Ph.D., Igor Aurrekoetxea,

Volume 85, Issue 2, Pages (January 2014)

Volume 63, Issue 1, Pages (January 2003)

Long-Range Polymerase Chain Reaction for Specific Full-Length Amplification of the Human Keratin 14 Gene and Novel Keratin 14 Mutations in Epidermolysis.

Airong Li, Sonia Davila, Laszlo Furu, Qi Qian, Xin Tian, Patrick S

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria Barbara Kloeckener-Gruissem,

The PHANTASTICA Gene Encodes a MYB Transcription Factor Involved in Growth and Dorsoventrality of Lateral Organs in Antirrhinum Richard Waites, Harinee.

Maternal Uniparental Meroisodisomy in the LAMB3 Region of Chromosome 1 Results in Lethal Junctional Epidermolysis Bullosa Yasuko Takizawa, Leena Pulkkinen,

Genetic studies into inherited and sporadic hemolytic uremic syndrome

Sadaf Naz, Chantal M. Giguere, David C. Kohrman, Kristina L

Validation of High-Resolution DNA Melting Analysis for Mutation Scanning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Marie-Pierre.

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

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton,

Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome Jaak Jaeken, Kevin Martens, Inge.

Volume 58, Issue 2, Pages (August 2000)

SLC7A9 mutations in all three cystinuria subtypes

Volume 56, Issue 5, Pages (November 1999)

Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications Sandro Rossetti, Lana Strmecki, Vicki Gamble, Sarah Burton, Vicky Sneddon,

Wook Lew Journal of Investigative Dermatology

A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness Margaret J. Kovach, Jing-Ping Lin, Simeon Boyadjiev,

Volume 57, Issue 3, Pages (March 2000)

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein

Volume 57, Issue 3, Pages (March 2000)

KIT Gene Deletions at the Intron 10−Exon 11 Boundary in GI Stromal Tumors Christopher L. Corless, Laura McGreevey, Ajia Town, Arin Schroeder, Troy Bainbridge,

Volume 59, Issue 5, Pages (May 2001)

Volume 63, Issue 4, Pages (April 2003)

Representative transaxial thin computed tomography (CT) sections at mid, mid-low, and low levels of the heart from a control subject (left) showing normal.

Volume 53, Issue 5, Pages (May 1998)

Volume 58, Issue 6, Pages (December 2000)

Figure 1 Schematic of the OPA3 gene and OPA3 protein isoform b

Volume 72, Issue 11, Pages (December 2007)

Volume 63, Issue 6, Pages (June 2003)

Volume 78, Issue 2, Pages (July 2010)

Alexandre Irrthum, Marika J

Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene Jerry Vockley, Peter K. Rogan,

Fang Wang, Yunfeng Wang, Jie Ding, Jiyun Yang Kidney International

A complete mutation screen of the ADPKD genes by DHPLC

Presentation transcript:

Mutational analysis within the 3′ region of the PKD1 gene Celia Badenas, Roser Torra, José Luis San Millán, Liliana Lucero, Montserrat Milà, Xavier Estivill, Alejandro Darnell Kidney International Volume 55, Issue 4, Pages 1225-1233 (April 1999) DOI: 10.1046/j.1523-1755.1999.00368.x Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 1 Single-strand conformational polymorphism (SSCP) analysis of the CB.6 polymerase chain reaction (PCR) product corresponding to exon 44 and intron 44 of the PKD1 gene in patients with autosomal dominant polycystic kidney disease (ADPKD). Abnormal fragments correspond to L4032L-C, Q4041X, V4044, IVS44+19delG, and IVS44+37ins5. PR43 presents the pattern of a normal individual plus two extra bands representing the mutant chromosome (carrying mutation Q4041X and the L4032L-C and IVS44+19delG variants). The fact that the normal pattern is present in this patient clearly indicates that the three detected changes are on the same chromosome. Kidney International 1999 55, 1225-1233DOI: (10.1046/j.1523-1755.1999.00368.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 2 Proposed evolution of PKD1 chromosomes carrying variants A4091A-A/G, A4058V, I4044V, L4136L-C/T, and 13135GA. Frequencies for these haplotypes are shown on the right. Kidney International 1999 55, 1225-1233DOI: (10.1046/j.1523-1755.1999.00368.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 3 Map of the region of the PKD1 transcript analyzed (exons 43 through 46) showing the locations of described mutations and of the coiled-coil domain. Mutations described in this article are shown in bold. Exons are shown in dark gray, introns in white, and the 3′UTR in pale gray. PKD1 domains as described by Sandford et al are shown at the bottom38: TM, transmembrane domains (white boxes) and coiled-coil domain (filled box). Mutation 10708del5.5kb, comprising from intron 34 to exon 46, is not shown. Kidney International 1999 55, 1225-1233DOI: (10.1046/j.1523-1755.1999.00368.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 4 COILS analysis of PKD1 mutation Q4224P. Plots showing the probability of forming a coiled-coil structure (y axis, from 0 to 1) against amino acid number (x axis, only the carboxy termini are represented) of the wild-type allele Q4224 and the P4224. Analyses were performed as indicated in the Methods section with the most stringent criteria (window size 28). The predicted coiled-coil of polycystin is illustrated as heptad repeats of seven amino acids. The letters a through g designate the positions of residues within the heptad with hydrophobic residues generally found at the “a” and “d” positions. The five consecutive heptads that from the coiled-coil structure are numbered 1 through 5 (residues 4214 through 4248 of polycystin). The glutamine at position 4224 is boxed. Two additional heptads (A and B), separated from the group of five by a proline-rich block of seven amino acids (underlined), are identified when a smaller window size is used. Kidney International 1999 55, 1225-1233DOI: (10.1046/j.1523-1755.1999.00368.x) Copyright © 1999 International Society of Nephrology Terms and Conditions