Presentation is loading. Please wait.

Presentation is loading. Please wait.

Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in.

Published byMaria Arnold Modified over 4 years ago

Similar presentations

Presentation on theme: "Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in."— Presentation transcript:

1 Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II  Erwin van Wijk, Ronald J.E. Pennings, Heleen te Brinke, Annemarie Claassen, Helger G. Yntema, Lies H. Hoefsloot, Frans P.M. Cremers, Cor. W.R.J. Cremers, Hannie Kremer  The American Journal of Human Genetics  Volume 74, Issue 4, Pages (April 2004) DOI: /383096 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Schematic representation of the USH2A protein structure. A, The previously described short isoform. B, The putative long isoform corresponding to the longest ORF. Novel mutations in the long isoform are depicted. The American Journal of Human Genetics  , DOI: ( /383096) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Expression profile analysis by semiquantitative RT-PCR analysis of USH2A. A, RT-PCR specific for the transcript encoding the short isoform. B, RT-PCR specific for transcript(s) encoding the long isoform(s). Samples were taken after 25, 30, and 35 cycles. The RNA used for RT-PCR analyses was derived from the following tissues: fetal (1) eye, (2) cochlea, (3) brain, (4) CNS, (5) stomach, (6) intestine, (7) skeleton, (8) heart, (9) tongue, (10) kidney, (11) lung, and (12) liver; adult (1) retina, (2) RPE-choroid, (3) cornea, (4) brain, (5) skeletal muscle, (6) heart, (7) kidney, (8) lung, (9) liver, and (10) testis. Expression of the short isoform was detected in several fetal and adult tissues, whereas expression of the long isoform was only detected in adult retina (predominantly), heart, and kidney. The American Journal of Human Genetics  , DOI: ( /383096) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Mutations in the novel exons of the USH2A gene. In each panel, the upper sequence pane shows the heterozygous mutation in the patient. The lower pane depicts the wild-type sequence. The American Journal of Human Genetics  , DOI: ( /383096) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Download ppt "Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in."

Similar presentations

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

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Expression of the novel gene embryo implantation factor 2 (EMO2) in the mouse uterus at the implantation sites  Zhaogui Sun, Ph.D., Renwei Su, Ph.D.,

Expression of the novel gene embryo implantation factor 2 (EMO2) in the mouse uterus at the implantation sites  Zhaogui Sun, Ph.D., Renwei Su, Ph.D.,
Volume 123, Issue 5, Pages (May 2016)

Volume 123, Issue 5, Pages (May 2016)
Cells, tissues, organs and systems

Cells, tissues, organs and systems
Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms 

Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms 
A PLEC Isoform Identified in Skin, Muscle, and Heart

A PLEC Isoform Identified in Skin, Muscle, and Heart
Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal- Recessive Nonsyndromic Hearing Impairment  Margit Schraders, Kwanghyuk Lee, Jaap.

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal- Recessive Nonsyndromic Hearing Impairment  Margit Schraders, Kwanghyuk Lee, Jaap.
Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E

Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E
Mutation Screening in Juvenile Polyposis Syndrome

Mutation Screening in Juvenile Polyposis Syndrome
Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature  Jose Morales, Latifa.

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature  Jose Morales, Latifa.
Comparative gene expression profiling of adult mouse ovary-derived oogonial stem cells supports a distinct cellular identity  Anthony N. Imudia, M.D.,

Comparative gene expression profiling of adult mouse ovary-derived oogonial stem cells supports a distinct cellular identity  Anthony N. Imudia, M.D.,
Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A

Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A
Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss  Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders,

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss  Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders,
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.

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.
Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia  Eri Arikawa-Hirasawa,

Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia  Eri Arikawa-Hirasawa,
Between Disease-Causing and an Innocent Bystander: The Role of Titin as a Modifier in Hypertrophic Cardiomyopathy  Brenda Gerull, MD  Canadian Journal.

Between Disease-Causing and an Innocent Bystander: The Role of Titin as a Modifier in Hypertrophic Cardiomyopathy  Brenda Gerull, MD  Canadian Journal.
A PLEC Isoform Identified in Skin, Muscle, and Heart

A PLEC Isoform Identified in Skin, Muscle, and Heart
Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy  Christina F. Chakarova, Myrto.

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy  Christina F. Chakarova, Myrto.
A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation  Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.

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

Similar presentations

Ads by Google