Volume 64, Issue 5, Pages (November 2003)

Slides:

Advertisements

Similar presentations

Quantitative Detection and Differentiation of Human Herpesvirus 6 Subtypes in Bone Marrow Transplant Patients by Using a Single Real-Time Polymerase Chain.

Advertisements

Schematic drawing of the human X chromosome and physical map the Xp interval carrying the ND gene. A 640-kb yeast artificial chromosome (YAC) clone was.

Ane Y. Schmidt, Thomas v. O. Hansen, Lise B

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A by Richard D. Bagnall, Naushin Waseem, Peter M.

Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over

Gene quantification using real-time quantitative PCR

Identification of Multiple Complex Rearrangements Associated with Deletions in the 6q23-27 Region in Sézary Syndrome Katarzyna Iżykowska, Mariola Zawada,

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

Volume 55, Issue 3, Pages (March 1999)

Next-Generation Sequencing-Assisted DNA-Based Digital PCR for a Personalized Approach to the Detection and Quantification of Residual Disease in Chronic.

by Sanjai Sharma, and Alan Lichtenstein

Volume 74, Issue 11, Pages (December 2008)

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Orly Elpeleg, Chaya.

Philippe Szankasi, Mohamed Jama, David W. Bahler

RNAi Professor Thomas Schmidt-Glenewinkel Room 841 HN

Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype.

Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease Nahid Tayebi, Barbara.

Thomas W. Prior, Scott J. Bridgeman

A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy Alessandra Ferlini,

Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic Failure Sjoerd Repping, Helen Skaletsky,

Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease Nahid Tayebi, Barbara.

Keeping Up With the Next Generation

T. Ohta, K. Buiting, H. Kokkonen, S. McCandless, S. Heeger, H

Exon Circularization Requires Canonical Splice Signals

Assessing loss of imprint methylation in sperm from subfertile men using novel methylation polymerase chain reaction Luminex analysis Akiko Sato, M.E.,

Decoding NF1 Intragenic Copy-Number Variations

A Multiplex qPCR Gene Dosage Assay for Rapid Genotyping and Large-Scale Population Screening for Deletional α-Thalassemia Wanjun Zhou, Ge Wang, Xuefeng.

Analysis of Rare APC Variants at the mRNA Level

A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Celia Moss, Amalia Martinez-Mir, HaMut.

Olivier Gruselle, Thierry Coche, Jamila Louahed

Supplemental Figure 3 A B C T-DNA 1 2 RGLG1 2329bp 3 T-DNA 1 2 RGLG2

Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2 Biao.

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

Comprehensive Mutation Analysis of the CYP21A2 Gene

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

Phosphorylation of Serine 2 within the RNA Polymerase II C-Terminal Domain Couples Transcription and 3′ End Processing Seong Hoon Ahn, Minkyu Kim, Stephen.

Daniel F. Tardiff, Scott A. Lacadie, Michael Rosbash Molecular Cell

Renata C. Gallagher, Birgit Pils, Mohammed Albalwi, Uta Francke

John D. Rioux, Valerie A. Stone, Mark J

A Multi-Exonic BRCA1 Deletion Identified in Multiple Families through Single Nucleotide Polymorphism Haplotype Pair Analysis and Gene Amplification with.

Expression of the 11β-hydroxysteroid dehydrogenase 2 gene in the mouse

Sarah E. Kerr, Cheryl B. Thomas, Stephen N. Thibodeau, Matthew J

Beth Elliott, Christine Richardson, Maria Jasin Molecular Cell

A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders Jennifer A. Lee, Claudia M.B. Carvalho, James.

A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis Shinichi.

Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B

A Pyrosequencing-Based Assay for the Rapid Detection of the 22q11

It takes two to Twist Kidney International

Volume 58, Issue 2, Pages (August 2000)

Epigenetic Control of the S100A6 (Calcyclin) Gene Expression

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability Feng Zhang, Pavel Seeman,

SLC7A9 mutations in all three cystinuria subtypes

Ken-Ichi Egoshi, Koichiro Akakura, Takaomi Kodama, Haruo Ito

Epigenetic Inactivation of Tumor Suppressor Genes in Serum of Patients with Cutaneous Melanoma Alessandra Marini, Alireza Mirmohammadsadegh, Sandeep.

Wook Lew Journal of Investigative Dermatology

Phenotype Diversity in Familial Cylindromatosis: A Frameshift Mutation in the Tumor Suppressor Gene CYLD Underlies Different Tumors of Skin Appendages

Figure 1. Kidney-Specific Cre/loxP Recombination.

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 82, Issue 9, Pages (November 2012)

Identification of TSIX, Encoding an RNA Antisense to Human XIST, Reveals Differences from its Murine Counterpart: Implications for X Inactivation Barbara.

Volume 82, Issue 9, Pages (November 2012)

Expression of multiple forms of MEL1 gene products.

A Complex Rearrangement in the APC Gene Uncovered by Multiplex Ligation- Dependent Probe Amplification Constanze Pagenstecher, Dorothea Gadzicki, Dietlinde.

MicroRNA Binding Sites in Arabidopsis Class III HD-ZIP mRNAs Are Required for Methylation of the Template Chromosome Ning Bao, Khar-Wai Lye, M.Kathryn.

Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype.

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

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia Paul.

Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility

Presentation transcript:

Volume 64, Issue 5, Pages 1564-1572 (November 2003) Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria Christa Schmidt, Udo Vester, Carsten A. Wagner, Sven Lahme, Albrecht Hesse, Peter Hoyer, Florian Lang, Klaus Zerres, Thomas Eggermann Kidney International Volume 64, Issue 5, Pages 1564-1572 (November 2003) DOI: 10.1046/j.1523-1755.2003.00250.x Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 1 Seven fragments in SLC3A1 and five fragments in SLC7A9 were studied. (A) Duplication detected in our patients in relation to the organization of the SLC3A1 gene. The baseline represents the genomic structure of SLC3A1. The Alu repeats (MIR, AluSx, and AluJb) possibly involved in the rearrangement appear as black vertical lines, their orientation is indicated by +/-. The horizontal black bar indicates the extent of the novel identified duplication. The localization of fragments used in the fluorogenic 5′ nuclease assays are represented by the lower arrows. Arrows Z, A, B, D, and F symbolize the fragments analyzed by the SYBR® green assays. (B) The minimal extent of deletions in SLC7A9 detected in our cystinuric patients is shown by the black horizontal bars. Interrupted boxes indicate that the extent of the deletions is unknown. Gray boxes show the exons and arrows indicate the position of primers and probes used for the quantitative analysis. Kidney International 2003 64, 1564-1572DOI: (10.1046/j.1523-1755.2003.00250.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 2 Genomic structure of the rearranged region in SLC3A1 and localization of the primers used for identification of the junction fragment. (A) Like Figure 1, the baseline represents the SLC3A1 gene, the AluSx repeats directly neighbored to the transition site are indicated by black boxes. Localization and orientation of primers DCF and YAR and cDNA primers C5D and C3R are represented by thin arrows. Extent and orientation of the rearranged sequences are symbolized by the arrow(s) below the baseline. (B) Sequence analysis of genomic DNA of the rearranged region including the transition site intron 9/intron 4. (C) RNA junction sequence identified by cDNA sequencing showing the transition from exon 9 to exon 5. Kidney International 2003 64, 1564-1572DOI: (10.1046/j.1523-1755.2003.00250.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 3 Possible formation mechanism of the complex rearrangement inSLC3A1. The gray boxes mark the complementary sequences in introns 9 and 4, which possibly pair, thereby allowing the rearrangement. Kidney International 2003 64, 1564-1572DOI: (10.1046/j.1523-1755.2003.00250.x) Copyright © 2003 International Society of Nephrology Terms and Conditions