Presentation is loading. Please wait.

Presentation is loading. Please wait.

A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A  Miki Tanioka, Arief Budiyant, Takahiro.

Published by이재 원 Modified over 5 years ago

Similar presentations

Presentation on theme: "A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A  Miki Tanioka, Arief Budiyant, Takahiro."— Presentation transcript:

1 A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A  Miki Tanioka, Arief Budiyant, Takahiro Ueda, Tohru Nagano, Masamitsu Ichihashi, Yoshiki Miyachi, Chikako Nishigori  Journal of Investigative Dermatology  Volume 125, Issue 2, Pages (August 2005) DOI: /j X x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Point mutation in intron 1 in XP79KO causes abberant splicing, resulting in frameshift in the coding region and stop site downstream. (a) Sequence of the region around exon 1–intron boundary of XP79KO and a normal individual. T to G transversion in the second base of intron 1 in XP79KO is schematically shown (star). (b) RT-PCR products from xeroderma pigmentosum group A (XPA) mRNA in normal human and XP79KO. Kb ladder DNA was used as size markers. (c) Base sequences of the cloned cDNA corresponding to normal and XP79KO mRNAs with codon numbers (boxed). Underlined codons mean frameshift. Two arrowheads indicate abnormal splice sites. A part of exon 1 in normal sequence is not shown. (d) A scheme of the aberrant splicing of pre-mRNA from the AlwNI and intron 1 mutation alleles in the XPA gene in XP79KO cells. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 XPA protein was not detected in XP79KO. Western blot analysis of normal human, XP79KO and XP101KO cells with mouse monoclonal (BD Pharmingen, San Diego, California: left panel) and rabbit polyclonal (Santa Cruz Biotechnology, Santa Cruz, California: right panel) anti-human xeroderma pigmentosum group A (XPA) antibodies. Horseradish peroxidase-conjugated secondary antibodies were visualized using an enzyme chemiluminescence system. Two arrows show the two bands of human XPA protein. Background (non-specific bands) indicates that the amount of the loaded extract was approximately equal in the lanes. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A  Miki Tanioka, Arief Budiyant, Takahiro."

Similar presentations

Michael F. Naso, Bailin Liang, C

Michael F. Naso, Bailin Liang, C
Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 
Skin-Specific Expression of ank-393, a Novel Ankyrin-3 Splice Variant

Skin-Specific Expression of ank-393, a Novel Ankyrin-3 Splice Variant
Matrix Metalloproteinase 9 Expression is Coordinately Modulated by the KRE-M9 and 12-O-Tetradecanoyl-Phorbol-13-Acetate Responsive Elements  Takashi Kobayashi,

Matrix Metalloproteinase 9 Expression is Coordinately Modulated by the KRE-M9 and 12-O-Tetradecanoyl-Phorbol-13-Acetate Responsive Elements  Takashi Kobayashi,
Expression and Localization of Tissue Kallikrein mRNAs in Human Epidermis and Appendages  Nahoko Komatsu, MD, Minoru Takata, Norio Otsuki, Tadashi Toyama,

Expression and Localization of Tissue Kallikrein mRNAs in Human Epidermis and Appendages  Nahoko Komatsu, MD, Minoru Takata, Norio Otsuki, Tadashi Toyama,
Philippe Szankasi, Mohamed Jama, David W. Bahler 

Philippe Szankasi, Mohamed Jama, David W. Bahler 
A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa  Goranka Tanackovic, Adriana Ransijn,

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa  Goranka Tanackovic, Adriana Ransijn,
Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A

Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A
Molecular Basis of Kindler Syndrome in Italy: Novel and Recurrent Alu/Alu Recombination, Splice Site, Nonsense, and Frameshift Mutations in the KIND1.

Molecular Basis of Kindler Syndrome in Italy: Novel and Recurrent Alu/Alu Recombination, Splice Site, Nonsense, and Frameshift Mutations in the KIND1.
IFN-γ Upregulates Expression of the Mouse Complement C1rA Gene in Keratinocytes via IFN-Regulatory Factor-1  Sung June Byun, Ik-Soo Jeon, Hyangkyu Lee,

IFN-γ Upregulates Expression of the Mouse Complement C1rA Gene in Keratinocytes via IFN-Regulatory Factor-1  Sung June Byun, Ik-Soo Jeon, Hyangkyu Lee,
Novel Mutations in the LAMC2 Gene in Non-Herlitz Junctional Epidermolysis Bullosa: Effects on Laminin-5 Assembly, Secretion, and Deposition  Daniele Castiglia,

Novel Mutations in the LAMC2 Gene in Non-Herlitz Junctional Epidermolysis Bullosa: Effects on Laminin-5 Assembly, Secretion, and Deposition  Daniele Castiglia,
Analysis of an exon 1 polymorphism of the B2 bradykinin receptor gene and its transcript in normal subjects and patients with C1 inhibitor deficiency 

Analysis of an exon 1 polymorphism of the B2 bradykinin receptor gene and its transcript in normal subjects and patients with C1 inhibitor deficiency 
Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 
Transcriptional Control of the Mouse Col7a1 Gene in Keratinocytes: Basal and Transforming Growth Factor-β Regulated Expression  Michael Naso, Jouni Uitto,

Transcriptional Control of the Mouse Col7a1 Gene in Keratinocytes: Basal and Transforming Growth Factor-β Regulated Expression  Michael Naso, Jouni Uitto,
Analysis of Rare APC Variants at the mRNA Level

Analysis of Rare APC Variants at the mRNA Level
Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels  Rebecca J. Fairclough,

Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels  Rebecca J. Fairclough,
Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family  Naoyuki Kariya, Yutaka Shimomura, Masaaki Ito 

Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family  Naoyuki Kariya, Yutaka Shimomura, Masaaki Ito 
Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis 

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

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 18, Issue 2, Pages (April 2005)

Volume 18, Issue 2, Pages (April 2005)

Similar presentations

Ads by Google