Presentation is loading. Please wait.

Presentation is loading. Please wait.

High Frequency of Hermansky–Pudlak Syndrome Type 1 (HPS1) Among Japanese Albinism Patients and Functional Analysis of HPS1 Mutant Protein  Shiro Ito,

Published byMiles Nash Modified over 5 years ago

Similar presentations

Presentation on theme: "High Frequency of Hermansky–Pudlak Syndrome Type 1 (HPS1) Among Japanese Albinism Patients and Functional Analysis of HPS1 Mutant Protein  Shiro Ito,"— Presentation transcript:

1 High Frequency of Hermansky–Pudlak Syndrome Type 1 (HPS1) Among Japanese Albinism Patients and Functional Analysis of HPS1 Mutant Protein  Shiro Ito, Tamio Suzuki, Katsuhiko Inagaki, Noriyuki Suzuki, Kenji Takamori, Tomoko Yamada, Mitsuru Nakazawa, Michihiro Hatano, Hirotsugu Takiwaki, Yumi Kakuta, Richard A. Spritz, Yasushi Tomita  Journal of Investigative Dermatology  Volume 125, Issue 4, Pages (October 2005) DOI: /j X x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Presence of Hermansky–Pudlak syndrome (HSP)4 protein in cultured mouse melanocyte lines. Cell extracts of wild-type melan-a (lane 1), Hps3-mutant (melan-coa; lane 2), Hps4-mutant (melan-le; lane 3), and Hps1—mutant (melan-ep; lane 4) melanocytes were immunoblotted using affinity-purified polyclonal antisera to mouse HPS4 protein. The mouse HPS4 protein reproducibly migrates at ∼80 kDa on SDS-PAGE. Anti-β-actin antibody was used as a control for protein loading. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Expression of exogenous human Hermansky–Pudlak syndrome type 1 (HPS1) and endogenous HPS4 proteins in melan-ep cells. Melan-ep melanocytes were transfected using pIREShyg3-HPS1normal (lane 1), pIREShyg3-HPS1mutantL668P (lane 2), and by pIREShyg3 as a mock (lane 3). Then the cell extracts were immunoblotted using the antibodies. Top: anti-HPS1 antibody; Middle: anti-HPS4 antibody; bottom: anti-β-actin antibody as a control for protein loading. Exogenous normal and L668P-mutant HPS1 protein were abundantly expressed in transfected cells. Endogenous HPS4 protein, however, was restored only in melan-ep cells transfected by the normal HPS1 expression plasmid. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Mutations of Hermansky–Pudlak syndrome type 1 (HPS1) gene. Five single-nucleotide polymorphisms (SNP) used for the haplotype analysis (upper) and eight mutations of HPS1 gene identified in this study (lower). Asterisks indicate novel mutations identified in this study. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "High Frequency of Hermansky–Pudlak Syndrome Type 1 (HPS1) Among Japanese Albinism Patients and Functional Analysis of HPS1 Mutant Protein  Shiro Ito,"

Similar presentations

Hisahiro Yoshida, Thomas Grimm, Emi K

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

A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A  Miki Tanioka, Arief Budiyant, Takahiro.
Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1  Elisabetta De Filippo, Anke.

Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1  Elisabetta De Filippo, Anke.
Volume 75, Issue 12, Pages (June 2009)

Volume 75, Issue 12, Pages (June 2009)
Differential Regulation by IL-1β and EGF of Expression of Three Different Hyaluronan Synthases in Oral Mucosal Epithelial Cells and Fibroblasts and Dermal.

Differential Regulation by IL-1β and EGF of Expression of Three Different Hyaluronan Synthases in Oral Mucosal Epithelial Cells and Fibroblasts and Dermal.
Constitutive Phosphorylation of Focal Adhesion Kinase Is Involved in the Myofibroblast Differentiation of Scleroderma Fibroblasts  Yoshihiro Mimura, Hironobu.

Constitutive Phosphorylation of Focal Adhesion Kinase Is Involved in the Myofibroblast Differentiation of Scleroderma Fibroblasts  Yoshihiro Mimura, Hironobu.
Melanocytes Derived from Patients with Hermansky–Pudlak Syndrome Types 1, 2, and 3 Have Distinct Defects in Cargo Trafficking  Bonnie Richmond, Marjan.

Melanocytes Derived from Patients with Hermansky–Pudlak Syndrome Types 1, 2, and 3 Have Distinct Defects in Cargo Trafficking  Bonnie Richmond, Marjan.
Tumor Necrosis Factor α Increases and α-Melanocyte-Stimulating Hormone Reduces Uveal Melanoma Invasion Through Fibronectin  Irene Cantón, Paula C. Eves,

Tumor Necrosis Factor α Increases and α-Melanocyte-Stimulating Hormone Reduces Uveal Melanoma Invasion Through Fibronectin  Irene Cantón, Paula C. Eves,
Efficient TRAIL-R1/DR4-Mediated Apoptosis in Melanoma Cells by Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand (TRAIL)  Bahtier M. Kurbanov, Christoph.

Efficient TRAIL-R1/DR4-Mediated Apoptosis in Melanoma Cells by Tumor Necrosis Factor-Related Apoptosis-Inducing Ligand (TRAIL)  Bahtier M. Kurbanov, Christoph.
Identification of a Hepatitis B Virus S Gene Mutant in Lamivudine-Treated Patients Experiencing HBsAg Seroclearance  Chao-Wei Hsu, Chau-Ting Yeh, Ming-Ling.

Identification of a Hepatitis B Virus S Gene Mutant in Lamivudine-Treated Patients Experiencing HBsAg Seroclearance  Chao-Wei Hsu, Chau-Ting Yeh, Ming-Ling.
MEP50/PRMT5 Reduces Gene Expression by Histone Arginine Methylation and this Is Reversed by PKCδ/p38δ Signaling  Kamalika Saha, Gautam Adhikary, Richard.

MEP50/PRMT5 Reduces Gene Expression by Histone Arginine Methylation and this Is Reversed by PKCδ/p38δ Signaling  Kamalika Saha, Gautam Adhikary, Richard.
Damage-Induced Ubiquitylation of Human RNA Polymerase II by the Ubiquitin Ligase Nedd4, but Not Cockayne Syndrome Proteins or BRCA1  Roy Anindya, Ozan.

Damage-Induced Ubiquitylation of Human RNA Polymerase II by the Ubiquitin Ligase Nedd4, but Not Cockayne Syndrome Proteins or BRCA1  Roy Anindya, Ozan.
Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan  Katsuhiko Inagaki, Tamio Suzuki, Hiroshi Shimizu, Norihisa Ishii,

Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan  Katsuhiko Inagaki, Tamio Suzuki, Hiroshi Shimizu, Norihisa Ishii,
Ayaka Yatsu, Norihiko Ohbayashi, Kanako Tamura, Mitsunori Fukuda 

Ayaka Yatsu, Norihiko Ohbayashi, Kanako Tamura, Mitsunori Fukuda 
Rose-Anne Romano, Barbara Birkaya, Satrajit Sinha 

Rose-Anne Romano, Barbara Birkaya, Satrajit Sinha 
Cadherin 11, a miR-675 Target, Induces N-Cadherin Expression and Epithelial– Mesenchymal Transition in Melasma  Nan-Hyung Kim, Soo-Hyun Choi, Tae Ryong.

Cadherin 11, a miR-675 Target, Induces N-Cadherin Expression and Epithelial– Mesenchymal Transition in Melasma  Nan-Hyung Kim, Soo-Hyun Choi, Tae Ryong.
Toshiyuki Ozawa, Daisuke Tsuruta, Jonathan C. R

Toshiyuki Ozawa, Daisuke Tsuruta, Jonathan C. R
Abnormal Translocation of Tyrosinase and Tyrosinase-Related Protein 1 in Cutaneous Melanocytes of Hermansky–Pudlak Syndrome and in Melanoma Cells Transfected.

Abnormal Translocation of Tyrosinase and Tyrosinase-Related Protein 1 in Cutaneous Melanocytes of Hermansky–Pudlak Syndrome and in Melanoma Cells Transfected.
Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism  Ai-Hua Wei, Dong-Jie Zang, Zhe Zhang, Xuan-Zhu Liu,

Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism  Ai-Hua Wei, Dong-Jie Zang, Zhe Zhang, Xuan-Zhu Liu,
Colocalization of Kindlin-1, Kindlin-2, and Migfilin at Keratinocyte Focal Adhesion and Relevance to the Pathophysiology of Kindler Syndrome  J.E. Lai-Cheong,

Colocalization of Kindlin-1, Kindlin-2, and Migfilin at Keratinocyte Focal Adhesion and Relevance to the Pathophysiology of Kindler Syndrome  J.E. Lai-Cheong,

Similar presentations

Ads by Google