Shirley Rainier, Jing-Hua Chai, Debra Tokarz, Robert D

Slides:

Advertisements

Similar presentations

Volume 1, Issue 4, Pages (March 1998)

Advertisements

Linkage and Association Studies Identify a Novel Locus for Alzheimer Disease at 7q36 in a Dutch Population-Based Sample Rosa Rademakers, Marc Cruts,

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families Michela Ranieri, Roberto Del Bo, Andreina Bordoni, Dario Ronchi,

Myopodin, a Synaptopodin Homologue, Is Frequently Deleted in Invasive Prostate Cancers Fan Lin, Yan-Ping Yu, Jeff Woods, Kathleen Cieply, Bill Gooding,

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

A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudoexon in CF patients Lucy Costantino, Laura Claut, Valentina Paracchini,

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G

Splicing defects in the CFTR gene: Minigene analysis of two mutations, G>C and A>G Gwendal Dujardin, Diane Commandeur, Catherine Le Jossic-Corcos,

Stephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, Martha A

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,

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

Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli- Opitz Syndrome Christopher A. Wassif, Cheryl Maslen, Stivelia Kachilele-Linjewile,

Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome Irene A. Aligianis, Neil V. Morgan, Marina.

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

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.

Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene Dessislava Markova, Yaqun Zou, Franziska Ringpfeil,

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

Thomas W. Prior, Scott J. Bridgeman

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy Christina F. Chakarova, Myrto.

Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints

Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions Dieter E.

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

DNA-Based Diagnosis of Xeroderma Pigmentosum Group C by Whole-Genome Scan Using Single-Nucleotide Polymorphism Microarray Ching-Wan Lam, Kitty Kit-Ting.

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

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution Edgar Otto, Julia Hoefele,

Volume 1, Issue 4, Pages (March 1998)

A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis Valeria Faa′, Alessandra.

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.

A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function.

A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS

Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation Sarah A. Shoichet,

Identification and Sequencing of a Putative Variant of Proopiomelanocortin in Human Epidermis and Epidermal Cells in Culture Gong Can, Zalfa Abdel-Malek,

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

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

Pseudoexon Activation as a Novel Mechanism for Disease Resulting in Atypical Growth- Hormone Insensitivity Louise A. Metherell, Scott A. Akker, Patricia.

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

RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome Susan J. Hassed, Graham B. Wiley, Shaofeng Wang, Ji-Yun Lee, Shibo Li, Weihong.

Michaela Floeth, Leena Bruckner-Tuderman

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

Small Evolutionarily Conserved RNA, Resembling C/D Box Small Nucleolar RNA, Is Transcribed from PWCR1, a Novel Imprinted Gene in the Prader-Willi Deletion.

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

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

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.

Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13 Michael.

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family Frédéric Laumonnier, Frédérique.

Meiotic Microdeletion Breakpoints in the BRCA1 Gene Are Significantly Associated with Symmetric DNA-Sequence Elements Beatrice Schmucker, Michael Krawczak

Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs A.M. Eeds, D. Mortlock, R.

Ying Jin, Stanca A. Birlea, Pamela R. Fain, Richard A. Spritz

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,

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)

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,

Bart A. Jessen, Marjorie A. Phillips, Robert H. Rice

Maureen J. O'Sullivan, Peter A. Humphrey, Louis P. Dehner, John D

C. Denier, S. Goutagny, P. Labauge, V. Krivosic, M Arnoult, A

On the Etruscan Mitochondrial DNA Contribution to Modern Humans

Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup

Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4 J.M. Newton, Orit Cohen-Barak,

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.

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,

Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X- Linked Hypohidrotic Ectodermal Dysplasia Mutations Alex W. Monreal,

Linkage and Association Studies Identify a Novel Locus for Alzheimer Disease at 7q36 in a Dutch Population-Based Sample Rosa Rademakers, Marc Cruts,

Presentation transcript:

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Shirley Rainier, Jing-Hua Chai, Debra Tokarz, Robert D. Nicholls, John K. Fink The American Journal of Human Genetics Volume 73, Issue 4, Pages 967-971 (October 2003) DOI: 10.1086/378817 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 a, Representative SPG6 sequence of normal and affected subjects from the ADHSP-ARK and ADHSP-IRQ kindreds. PCR products (from 50 ng of DNA) were purified through Sephadex G-50 columns, were analyzed by agarose gel electrophoresis, and were sequenced either by use of the ABI PRISM dRhodamine Terminator Cycle Sequencing Ready Reaction Kit (PE Applied Biosystems) on an ABI PRISM 3100 Genetic Analyzer, according to the manufacturer’s instructions, or through the University of Pennsylvania DNA sequencing facility. The arrows mark the position of the NIPA1 mutation (cDNA nucleotide 159). b, Pedigrees of ADHSP-ARK1 and ADHSP-IRQ1. Letters refer to sequence at nucleotide 159 of the NIPA1 cDNA sequence. Clinical features (Fink et al. 1995a), muscle biopsy (Hedera et al. 2000), and genetic features (Fink et al. 1995b) of ADHSP-ARK1 have been reported elsewhere. The ADHSP-IRQ1 kindred was ascertained through the University of Michigan Neurology Outpatient Clinic. The American Journal of Human Genetics 2003 73, 967-971DOI: (10.1086/378817) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 a, SPG6 occurs in regions deleted in PWS and AS. SPG6 is mapped to chromosome 15q11, proximal to the imprinted PWS and AS domains, within a region containing four nonimprinted genes. These genes, including NIPA1, map within class I deletions in patients with PWS and AS but are intact in class II deletions (Chai et al. 2003 [in this issue]). BP = breakpoint hotspot; cen = centromere; tel = telomere. b, NIPA1 secondary structure analysis. Nine predicted transmembrane (TM) domains (Chai et al. 2003 [in this issue]) are shown. The NIPA1 T45R mutation occurs at the interface of TM1 and the first putative outside loop. c, Expression of NIPA1 by northern blot analysis. NIPA1 transcripts of 2.2 kb and 7.5 kb are found in all tissues but are greatly enriched in neuronal tissues. Probes were prepared from TA-cloned RT-PCR products of human NIPA1 (167 bp) and exons 2–3 of the control SNURF-SNRPN gene, were labeled with α-32P-dCTP, and were hybridized in ExpressHyb (Clontech) at 65°C to northern blots (Clontech), according to the manufacturer’s protocol. The American Journal of Human Genetics 2003 73, 967-971DOI: (10.1086/378817) Copyright © 2003 The American Society of Human Genetics Terms and Conditions