A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1)

被引：13
|
作者：
Nakamura, E
Miyamura, Y
Matsunaga, J
Kano, Y
Dakeishi-Hara, M
Tanita, M
Kono, M
Tomita, Y
机构：
[1] Nagoya Univ, Grad Sch Med, Dept Dermatol, Shouwa Ku, Nagoya, Aichi 4668550, Japan
[2] Akita Univ, Sch Med, Dept Dermatol, Akita 0108543, Japan
[3] Tohoku Univ, Grad Sch Med, Dept Dermatol, Aoba Ku, Sendai, Miyagi 9808574, Japan
[4] Kyorin Univ, Sch Med, Dept Dermatol, Mitaka, Tokyo 1818611, Japan
来源：
JOURNAL OF DERMATOLOGICAL SCIENCE | 2002年 / 28卷 / 02期
关键词：
albinism; melanin; pigment; tyrosinase;
D O I：
10.1016/S0923-1811(01)00141-4
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life. In this paper. we report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.
引用
收藏
页码：102 / 105
页数：4
相关论文
共 50 条
  • [21] Tyrosinase gene mutations in the Chinese Han population with OCA1
    Liu, Ning
    Kong, Xiang Dong
    Shi, Hui Rong
    Wu, Qing Hua
    Jiang, Miao
    [J]. GENETICS RESEARCH, 2014, 96
  • [22] The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation
    Toyofuku, K
    Wada, I
    Spritz, RA
    Hearing, VJ
    [J]. BIOCHEMICAL JOURNAL, 2001, 355 : 259 - 269
  • [23] Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1
    Liu, Jing
    Choy, Kwong-Wai
    Chan, Leo W. L.
    Leung, Tak-Yeung
    Tam, Pancy O. S.
    Chiang, Sylvia W. Y.
    Lam, Dennis S. C.
    Pang, Chi-Pui
    Lai, Timothy Y. Y.
    [J]. CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2010, 38 (01): : 37 - 42
  • [24] Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
    Norman, Chelsea S.
    O'Gorman, Luke
    Gibson, Jane
    Pengelly, Reuben J.
    Baralle, Diana
    Ratnayaka, J. Arjuna
    Griffiths, Helen
    Rose-Zerilli, Matthew
    Ranger, Megan
    Bunyan, David
    Lee, Helena
    Page, Rhiannon
    Newall, Tutte
    Shawkat, Fatima
    Mattocks, Christopher
    Ward, Daniel
    Ennis, Sarah
    Self, Jay E.
    [J]. SCIENTIFIC REPORTS, 2017, 7
  • [25] Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
    Chelsea S. Norman
    Luke O’Gorman
    Jane Gibson
    Reuben J. Pengelly
    Diana Baralle
    J. Arjuna Ratnayaka
    Helen Griffiths
    Matthew Rose-Zerilli
    Megan Ranger
    David Bunyan
    Helena Lee
    Rhiannon Page
    Tutte Newall
    Fatima Shawkat
    Christopher Mattocks
    Daniel Ward
    Sarah Ennis
    Jay E. Self
    [J]. Scientific Reports, 7
  • [26] A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)
    Kato, A
    Fukai, K
    Oiso, N
    Hosomi, N
    Saitoh, S
    Wada, T
    Shimizu, H
    Ishii, M
    [J]. JOURNAL OF DERMATOLOGICAL SCIENCE, 2003, 31 (03) : 189 - 192
  • [27] A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China
    LIN Yu-ying
    WEI Ai-hua
    ZHOU Zhi-yong
    ZHU Wei
    HE Xin
    LIAN Shi
    [J]. 中华医学杂志(英文版), 2011, (20) : 3358 - 3361
  • [28] MUTATIONS OF THE TYROSINASE GENE IN INDO-PAKISTANI PATIENTS WITH TYPE-I (TYROSINASE-DEFICIENT) OCULOCUTANEOUS ALBINISM (OCA)
    TRIPATHI, RK
    BUNDEY, S
    MUSARELLA, MA
    DROETTO, S
    STRUNK, KM
    HOLMES, SA
    SPRITZ, RA
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (06) : 1173 - 1179
  • [29] A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China
    Lin Yu-ying
    Wei Ai-hua
    Zhou Zhi-yong
    Zhu Wei
    He Xin
    Lian Shi
    [J]. CHINESE MEDICAL JOURNAL, 2011, 124 (20) : 3358 - 3361
  • [30] Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)
    Spritz, RA
    Lee, ST
    Fukai, K
    BrondumNielsen, K
    Chitayat, D
    Lipson, MH
    Musarella, MA
    Rosenmann, A
    Weleber, RG
    [J]. HUMAN MUTATION, 1997, 10 (02) : 175 - 177
12345