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Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4  J.M. Newton, Orit Cohen-Barak,

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Presentation on theme: "Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4  J.M. Newton, Orit Cohen-Barak,"— Presentation transcript:

1 Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4  J.M. Newton, Orit Cohen-Barak, Nobuko Hagiwara, John M. Gardner, Muriel T. Davisson, Richard A. King, Murray H. Brilliant  The American Journal of Human Genetics  Volume 69, Issue 5, Pages (November 2001) DOI: /324340 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Mapping of mouse uw on proximal chromosome 15. F1 offspring generated from C57BL/6J-Uwdbr/Uwdbr X CAST/Ei-+/+ matings were intercrossed. We genotyped both +/+ and Uwdbr/Uwdbr F2 mice, for strain-specific alleles, with a panel of PCR markers, according to manufacturer’s protocols (Research Genetics). The physical map of D15Mit markers used in this cross is shown relative to mapped genes and is compared with the homologous region of human 5p. The gene order and spacing of human genes were deduced from data deposited in the Celera public database. The American Journal of Human Genetics  , DOI: ( /324340) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Conservation of human and mouse MATP proteins. Two-way clustal alignment of human and mouse MATP amino acid sequences is shown. Identical/similar residues are boxed; identical residues are shaded; predicted transmembrane domains are underlined. The position of the Uwdbr substitution is indicated by the asterisk (*), and the uwd substitution is indicated by the pound sign (#). The American Journal of Human Genetics  , DOI: ( /324340) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Similarity between topology of MATP protein and that of known transporters. Membrane topology was predicted on the basis of analyses by several programs, such as MacVector and the Web-based software TMHMM (v. 2.0) and TopPred 2. The sucrose-symporter signature sequence residues are indicated the asterisks (*). Residues altered by the Uwdbr and uwd mutations are also indicated. The American Journal of Human Genetics  , DOI: ( /324340) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Expression of the Matp gene in weanling eyes. For northern analysis, two identical blots containing 5 μg of total eye RNA from each of the strains indicated were hybridized with probes from either the mouse Matp cDNA (nucleotides 118–1004 [upper panel]) or the mouse p cDNA (nucleotides 375–2773 [lower panel]). The American Journal of Human Genetics  , DOI: ( /324340) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

6 Figure 5 OCA4 caused by mutations in MATP, showing hypopigmentation of skin, hair, and eyes. Inset, Same patient as a child. The American Journal of Human Genetics  , DOI: ( /324340) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

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