Homozygous promoter variant of SLC45A2 causes diverse hair color and patterns

被引:1
|
作者
Hida, Tokimasa [1 ]
Tsukamoto, Katsuhiko [2 ]
Okura, Masae [1 ]
Uhara, Hisashi [1 ]
机构
[1] Sapporo Med Univ, Sch Med, Dept Dermatol, Sapporo, Hokkaido, Japan
[2] Yamanashi Prefectural Cent Hosp, Dept Dermatol, Kofu, Yamanashi, Japan
来源
JOURNAL OF DERMATOLOGY | 2020年 / 47卷 / 10期
关键词
OCULOCUTANEOUS ALBINISM TYPE-4;
D O I
10.1111/1346-8138.15509
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:E351 / E352
页数:2
相关论文
共 50 条
  • [1] Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation
    Graf, Justin
    Voisey, Joanne
    Hughes, Ian
    van Daal, Angela
    HUMAN MUTATION, 2007, 28 (07) : 710 - 717
  • [2] Expression and Mutation of SLC45A2 Affects Iris Color in Quail
    Huo, Linke
    Zhang, Xiaohui
    Pang, Youzhi
    Qi, Yanxia
    Ren, Shiwei
    Wu, Fanghu
    Shang, Yuanyuan
    Xi, Jinquan
    JOURNAL OF POULTRY SCIENCE, 2024, 61
  • [3] Association of the SLC45A2 gene with physiological human hair colour variation
    Branicki, Wojciech
    Brudnik, Urszula
    Draus-Barini, Jolanta
    Kupiec, Tomasz
    Wojas-Pelc, Anna
    JOURNAL OF HUMAN GENETICS, 2008, 53 (11-12) : 966 - 971
  • [4] Association of the SLC45A2 gene with physiological human hair colour variation
    Wojciech Branicki
    Urszula Brudnik
    Jolanta Draus-Barini
    Tomasz Kupiec
    Anna Wojas-Pelc
    Journal of Human Genetics, 2008, 53 : 966 - 971
  • [5] Impact of a 4-bp deletion variant (rs984225803) in the promoter region of SLC45A2 on color variation among a Japanese population
    Okamura, Ken
    Abe, Yuko
    Hayashi, Masahiro
    Saito, Toru
    Nagatani, Kei
    Tanoue, Toshihide
    Wataya-Kaneda, Mari
    Hozumi, Yutaka
    Suzuki, Tamio
    JOURNAL OF DERMATOLOGY, 2019, 46 (08): : E295 - E296
  • [6] Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail
    Gunnarsson, Uhika
    Hellstrom, Anders R.
    Tixier-Boichard, Michele
    Minvielle, Francis
    Bed'hom, Bertrand
    Ito, Shin'ichi
    Jensen, Per
    Rattink, Annemieke
    Vereijken, Addie
    Andersson, Leif
    GENETICS, 2007, 175 (02) : 867 - 877
  • [7] A novel variant in the regulatory region of the SLC45A2 is associated with mild OCA4
    Okamura, K.
    Hayashi, M.
    Hozumi, Y.
    Suzuki, T.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2017, 137 (05) : S84 - S84
  • [8] A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs
    Winkler, Paige A.
    Gornik, Kara R.
    Ramsey, David T.
    Dubielzig, Richard R.
    Venta, Patrick J.
    Petersen-Jones, Simon M.
    Bartoe, Joshua T.
    PLOS ONE, 2014, 9 (03):
  • [9] Identification of a novel missense variant in SLC45A2 associated with dilute snowdrop phenotype in Gypsy horses
    Bisbee, Danielle
    Carpenter, Meredith L.
    Hoefs-Martin, Katie
    Brooks, Samantha A.
    Lafayette, Christa
    ANIMAL GENETICS, 2020, 51 (02) : 342 - 343
  • [10] SLC45A2 variations in Indian oculocutaneous albinism patients
    Sengupta, Mainak
    Chaki, Moumita
    Arti, N.
    Ray, Kunal
    MOLECULAR VISION, 2007, 13 (152-56): : 1406 - 1411