E.J. Hollox, J.A.L. Armour, J.C.K. Barber

Slides:

Advertisements

Similar presentations

Lisa Edelmann, Raj K. Pandita, Bernice E. Morrow

Advertisements

Kendy K. Wong, Ronald J. deLeeuw, Nirpjit S. Dosanjh, Lindsey R

Laila C. Schenkel, Charles Schwartz, Cindy Skinner, David I

Jacek Majewski The American Journal of Human Genetics

Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5- Mb Region of Overlap on Chromosome 22q11 B. Funke, L. Edelmann, N. McCain,

Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization Stefan White, Margot.

Diagnostic Genome Profiling in Mental Retardation

Discordance between Genetic and Epigenetic Defects in Pseudohypoparathyroidism Type 1b Revealed by Inconsistent Loss of Maternal Imprinting at GNAS1

Michael Cullen, Stephen P

Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

A Tumor Sorting Protocol that Enables Enrichment of Pancreatic Adenocarcinoma Cells and Facilitation of Genetic Analyses Zachary S. Boyd, Rajiv Raja,

Sequencing of t(2;7) Translocations Reveals a Consistent Breakpoint Linking CDK6 to the IGK Locus in Indolent B-Cell Neoplasia Edward P.K. Parker, Reiner.

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular.

Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families Tamim H. Shaikh, Marcia L. Budarf, Livija.

Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation Sabrina Giglio,

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.

Molecular Cytogenetic Evidence for a Common Breakpoint in the Largest Inverted Duplications of Chromosome 15 A.E. Wandstrat, J. Leana-Cox, L. Jenkins,

Polymorphisms in the Trace Amine Receptor 4 (TRAR4) Gene on Chromosome 6q23.2 Are Associated with Susceptibility to Schizophrenia Jubao Duan, Maria Martinez,

Microsatellite Polymorphism in the Heme Oxygenase-1 Gene Promoter Is Associated with Susceptibility to Emphysema Norihiro Yamada, Mutsuo Yamaya, Shoji.

Ying-Ying Yu, Ph. D. , Cui-Xiang Sun, Ph. D. , Yin-Kun Liu, Ph. D

Transcriptional Consequences of 16p11

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

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

Gene-Expression Variation Within and Among Human Populations

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

Shuji Ogino, Debra G.B. Leonard, Hanna Rennert, Robert B. Wilson

Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension Miguel Del Campo, Anna Antonell, Luis F.

Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities Jorune Balciuniene, Ningping Feng, Kelly.

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease Calogera M. Simonaro, Jae-Ho Park, Efrat Eliyahu,

Volume 126, Issue 6, Pages (September 2006)

Laurent Gouya Journal of Investigative Dermatology

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

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

Bassem A. Bejjani, Lisa G. Shaffer

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion Zhengrui Xi, Lorne Zinman, Danielle Moreno, Jennifer Schymick,

Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements Sabrina Giglio, Karl W. Broman, Naomichi Matsumoto,

Sonal S. Joshi, Victoria H. Meller Current Biology

High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage

Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected.

A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome– Deletion Region at 7q11.23 Risa Peoples, Yvonne Franke, Yu-Ker Wang,

High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization Joris A. Veltman, Eric F.P.M.

Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

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

Janet M. Young, RaeLynn M. Endicott, Sean S

Identification and characterization of a novel KRAS rearrangement in metastatic prostate cancer. Identification and characterization of a novel KRAS rearrangement.

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

Volume 7, Issue 2, Pages (August 2010)

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

Zvi Tamari, Naama Barkai Cell Reports

Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5- Mb Region of Overlap on Chromosome 22q11 B. Funke, L. Edelmann, N. McCain,

Pleiotropic Effects of Trait-Associated Genetic Variation on DNA Methylation: Utility for Refining GWAS Loci Eilis Hannon, Mike Weedon, Nicholas Bray,

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

Volume 109, Issue 4, Pages (May 2002)

A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events

Volume 41, Issue 2, Pages (January 2011)

Genomewide Association Analysis of Human Narcolepsy and a New Resistance Gene Minae Kawashima, Gen Tamiya, Akira Oka, Hirohiko Hohjoh, Takeo Juji, Takashi.

Heritability of Cellular Radiosensitivity: A Marker of Low-Penetrance Predisposition Genes in Breast Cancer? S.A. Roberts, A.R. Spreadborough, B. Bulman,

Gene Amplification as a Developmental Strategy

Volume 21, Issue 23, Pages (December 2011)

C. E. Browne, N. R. Dennis, E. Maher, F. L. Long, J. C. Nicholson, J

Measurement of Relative Copy Number of CDKN2A/ARF and CDKN2B in Bladder Cancer by Real-Time Quantitative PCR and Multiplex Ligation-Dependent Probe Amplification

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies Haiyan Zhou, Martin Brockington, Heinz Jungbluth, David Monk, Philip Stanier,

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular.

Christa Lese Martin, Andrew Wong, Alyssa Gross, June Chung, Judy A

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy Richard J.L.F. Lemmers,

Sequence Homology between 4qter and 10qter Loci Facilitates the Instability of Subtelomeric KpnI Repeat Units Implicated in Facioscapulohumeral Muscular.

K. Miura, M. Obama, K. Yun, H. Masuzaki, Y. Ikeda, S. Yoshimura, T

Presentation transcript:

Extensive Normal Copy Number Variation of a β-Defensin Antimicrobial-Gene Cluster E.J. Hollox, J.A.L. Armour, J.C.K. Barber The American Journal of Human Genetics Volume 73, Issue 3, Pages 591-600 (September 2003) DOI: 10.1086/378157 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 MAPH probe locations on 8p23.1. Positions of the MAPH probes (A–N) used to screen 8p23.1 for copy number variation are shown by arrows, together with the ORRs named “REPP” and “REPD” by Giglio et al. (2001). The area identified as involved in the copy number variation is shown in detail and is represented twice in this genome assembly (November 2002 assembly; for details, see the University of California–Santa Cruz [UCSC] Genome Bioinformatics Web site). The probe marked with an asterisk (*) showed increased dosage in 8p23.1 EVs but maps to ORR sequences and was not included in the main MAPH probe set. RefSeq = reference sequence. The American Journal of Human Genetics 2003 73, 591-600DOI: (10.1086/378157) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 MAPH analysis of normal control individual and 8p23.1 EV carrier. A MAPH chromatogram shows the analysis of an EV carrier (bottom), with 12 copies of the 8p23.1 repeat unit, and a control DNA sample (top), with 3 copies of the 8p23.1 repeat unit. The X-axis represents probe length (in bp), and the Y-axis represents relative fluorescence units. Each peak represents a different amplifiable probe separated by length. The three probes (F–H) measuring β-defensin–cluster copy number are indicated, together with a probe (E) mapping to DEFA1. Other peaks represent other probes, most of which (47 of the remaining 57) map to single-copy subtelomeric regions and have a copy number of two per diploid genome. The areas of the polymorphic probe peaks (F–H) in the control sample (three copies) are similar to, but slightly larger than, the subtelomeric probe peaks (two copies). The American Journal of Human Genetics 2003 73, 591-600DOI: (10.1086/378157) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 3 SQ-FISH of 8p23.1 EV (left) and normal (right) homologs in individual II:1 of family 3, using 8p23.1 BAC 51D11 (red) and D8Z2 centromere probe (green). The American Journal of Human Genetics 2003 73, 591-600DOI: (10.1086/378157) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 4 MAPH analysis of 8p23.1 copy number in three families. Pedigrees of families 1–3 are annotated with MAPH-determined copy number (see also table 2). Half-blackened symbols indicate EV carriers. N = chromosomally normal; nt = not tested. The American Journal of Human Genetics 2003 73, 591-600DOI: (10.1086/378157) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 5 DEFB4 transcript levels versus β-defensin–cluster DNA copy number for a series of seven lymphoblastoid cell lines. DEFB4 transcript was measured in triplicate by using duplex RT-PCR with TBP as a control transcript. Mean ratio (transformed to log10) ± SEM of DEFB4:TBP intensity ratios is shown on the Y-axis, and MAPH copy number is shown (mean of five tests ± SEM) on the X-axis. There is a significant correlation between DEFB4 transcript levels and β-defensin–cluster copy number (r2=0.5; P<.05). A similar pattern of variation in DEFB4 expression level was also obtained, using G3PD as a control transcript (data not shown). The American Journal of Human Genetics 2003 73, 591-600DOI: (10.1086/378157) Copyright © 2003 The American Society of Human Genetics Terms and Conditions