Molecular Basis of Genetic Disorders of Pigmentation in Humans and Mice
作者： Richard A. Spritz
DOI: 10.1007/978-3-642-61122-3_10
关键词:
摘要: Disorders of pigmentation were among the first genetic diseases recognized in humans. The distinctive phenotypes oculocutaneous albinism (OCA) and piebaldism known to ancient Greeks Romans, typical clinical features, modes inheritance, heterogeneity these disorders are apparent even classical descriptions (Lucian, 1905; Pliny, 1942; Gellius, 1952). Similar early mouse, availability inbred lines carrying characterized mutations has made mouse an invaluable tool for studies pigmentation. Absent catalytic activity tyrosinase skin albino animals was one enzymatic deficiencies (Durham, 1904), as 1908 Garrod suggested that might be inborn error metabolism (Garrod, 1908).
springer.com
sci-hub.st 参考文章(128)
Nancy B. Spinner, Richard A. Spritz, Elaine H. Zackai, Seung Taek Lee, Robert D. Nicholls, Rhonda E. Schnur, Jennifer Lu-Kuo, Leticia C. Guida, Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Human Molecular Genetics. ,vol. 3, pp. 2047- 2051 ,(1994)
Hearing Vj, Urabe K, Winder A, Aroca P, Tsukamoto K, Kobayashi T, Kameyama K, The tyrosinase gene family--interactions of melanogenic proteins to regulate melanogenesis. Cellular and Molecular Biology Research. ,vol. 40, pp. 613- ,(1994)
deCastro Cm, Dew-Knight S, Kaufman Re, Taylor H, Vandenbark Gr, Cloning and structural analysis of the human c-kit gene. Oncogene. ,vol. 7, pp. 1259- 1266 ,(1992)
S J Funderburk, B F Crandall, Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion. American Journal of Human Genetics. ,vol. 26, pp. 715- 722 ,(1974)
Richard A. Spritz, Kathleen M. Strunk, Lutz B. Giebel, Ram K. Tripathi, A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity. Gene Expression. ,vol. 1, pp. 103- 110 ,(1991)
M. D. Goulding, G. Chalepakis, U. Deutsch, J. R. Erselius, P. Gruss, Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. The EMBO Journal. ,vol. 10, pp. 1135- 1147 ,(1991) , 10.1002/J.1460-2075.1991.TB08054.X
Richard A. Spritz, Vincent J. Hearing, Genetic Disorders of Pigmentation Advances in human genetics. ,vol. 22, pp. 1- 45 ,(1994) , 10.1007/978-1-4757-9062-7_1
S. Nishikawa, M. Kusakabe, K. Yoshinaga, M. Ogawa, S. Hayashi, T. Kunisada, T. Era, T. Sakakura, S. Nishikawa, In utero manipulation of coat color formation by a monoclonal anti-c-kit antibody: two distinct waves of c-kit-dependency during melanocyte development. The EMBO Journal. ,vol. 10, pp. 2111- 2118 ,(1991) , 10.1002/J.1460-2075.1991.TB07744.X
Waardenburg Pj, A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. American Journal of Human Genetics. ,vol. 3, pp. 195- 253 ,(1951)
T B Friedman, J H Asher, R Morell, Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q. American Journal of Human Genetics. ,vol. 48, pp. 43- 52 ,(1991)