Presentation is loading. Please wait.

Presentation is loading. Please wait.

A Novel Mutation in the L12 Domain of Keratin 5 in the Köbner Variant of Epidermolysis Bullosa Simplex  Philippa Galligan, Pawel Listwan, Gregory M. Siller,

Published byNgô Dương Modified over 5 years ago

Similar presentations

Presentation on theme: "A Novel Mutation in the L12 Domain of Keratin 5 in the Köbner Variant of Epidermolysis Bullosa Simplex  Philippa Galligan, Pawel Listwan, Gregory M. Siller,"— Presentation transcript:

1 A Novel Mutation in the L12 Domain of Keratin 5 in the Köbner Variant of Epidermolysis Bullosa Simplex  Philippa Galligan, Pawel Listwan, Gregory M. Siller, Joseph A. Rothnagel  Journal of Investigative Dermatology  Volume 111, Issue 3, Pages (September 1998) DOI: /j x Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Sequence analysis of the L12 domain of K5 in EBS-K patients and unaffected family members. (a) Sequence of the normal K5 alleles obtained from an unaffected family member. (b) Direct genome sequencing of the proband (individual III.2 in Figure 2) who is heterozygous for the mutant allele. The affected individual contains a T to C mutation (indicated by the arrow) in codon 323, resulting in the expression of alanine at position 7 of the L12 domain. The sequence shown begins at the first codon of the L12 domain. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Restriction enzyme analysis of codon 323 showing cosegregation of the mutation with affected individuals. The L12 region of K5 was amplified and the 280 bp product digested with Msp A1 I. The T to C transition identified in the proband creates a Msp A1 I site in the mutant allele and results in 197 bp and 83 bp fragments after digestion. Wild-type alleles remain uncut. Solid symbols denote affected individuals, open symbols unaffected individuals; males are represented by squares and females by circles. The arrow indicates the proband (individual III.2). Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Sequence comparison of the L12 linker peptide showing conservation of the valine residue at position 7. The delineation of the L12 region is as determined byConway & Parry (1988). EBSmut indicates the disease-associated mutations found in this study (V7A) and in other studies (Rugg et al.1993;Chan et al.1994;Matsuki et al.1995). The SwissProt accession numbers are: K5-P13647; K1-P04264; K2e-P35908; K2p-Q01546; K3-P12035; K4-P19013; K6a-P02538; K7-P08729; K8-P05786; XK8 Xenopus laevis-P04266; FK8 Carassius auratus-P18520; Wool(7c) Ovis aries-P15241; Vimentin-P08670; Desmin-P17661; GFAP-P14136; Hagfishγ polymer-Q90502. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 Secondary structure analysis of the L12 linker peptide. The Chou and Fasman algorithm of the peptide analysis tool (PEPPLOT) of ANGIS ( was used to calculate the affect of the alanine substitution at position seven. The graphs show the propensity for α-helix (red curve) and β-sheet (blue curve) formation for the normal L12 sequence (a) and the mutant L12 sequence (b). Both curves are the average of a residue-specific attribute over a window of four residues. The threshold value for the continuation of a given structure is arbitrarily set at 1.0. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "A Novel Mutation in the L12 Domain of Keratin 5 in the Köbner Variant of Epidermolysis Bullosa Simplex  Philippa Galligan, Pawel Listwan, Gregory M. Siller,"

Similar presentations

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

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.
Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency  Aoi Nakano, Ellen Pfendner,

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency  Aoi Nakano, Ellen Pfendner,
Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.
Volume 63, Issue 1, Pages (January 2003)

Volume 63, Issue 1, Pages (January 2003)
Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.

Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.
Molecular Mechanisms of Junctional Epidermolysis Bullosa: Col15 Domain Mutations Decrease the Thermal Stability of Collagen XVII  Laura Väisänen, Cristina.

Molecular Mechanisms of Junctional Epidermolysis Bullosa: Col15 Domain Mutations Decrease the Thermal Stability of Collagen XVII  Laura Väisänen, Cristina.
Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)  Carrie S. Shemanko 

Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)  Carrie S. Shemanko 
Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 
A Novel Keratin 5 Mutation (K5V186L) in a Family with EBS-K: a Conservative Substitution Can Lead to Development of Different Disease Phenotypes  Mirjana.

A Novel Keratin 5 Mutation (K5V186L) in a Family with EBS-K: a Conservative Substitution Can Lead to Development of Different Disease Phenotypes  Mirjana.
Volume 54, Issue 3, Pages (September 1998)

Volume 54, Issue 3, Pages (September 1998)
Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene  Alexandra M. Dumitrescu,

A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene  Alexandra M. Dumitrescu,
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 
Volume 58, Issue 4, Pages (October 2000)

Volume 58, Issue 4, Pages (October 2000)
The Genetic Basis of Pachyonychia Congenita

The Genetic Basis of Pachyonychia Congenita
Peter Ianakiev, Michael W

Peter Ianakiev, Michael W
Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations  Gabriele.

Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations  Gabriele.
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 

Similar presentations

Ads by Google