Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

American Journal of Human Genetics

Volumn 69, Issue 5, 2001, Pages 981-988

  Newton, J M ^a   Cohen Barak, Orit ^a   Hagiwara, Nobuko ^a   Gardner, John M ^a   Davisson, Muriel T ^b   King, Richard A ^c   Brilliant, Murray H ^a  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^b JACKSON LABORATORY   (United States)

^c UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; MEMBRANE ASSOCIATED TRANSPORTER PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ALBINISM; AMINO ACID SEQUENCE; ANIMAL MODEL; ARTICLE; GENE MUTATION; MELANOSOME; MOLECULAR CLONING; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OCULOCUTANEOUS ALBINISM; PIGMENTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ANIMALIA; OXALIS TUBEROSA;

EID: 0034753365     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/324340     Document Type: Article

References (31)

1. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with Brown oculocutaneous albinism: A new type of albinism classified as "OCA3"
2. Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase
3. On beyond classic RACE (rapid amplification of cDNA ends)
4. Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka
5. The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman syndromes
6. Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLAA*0201-restricted T cells
7. Enzymatic control of pigmentation in mammals
8. Melanin: A two edged sword?
9. Deficiency of the gene B impairs differentiation of melanophores in the medaka fish, Oryzias latipes: Fine structure studies
10. A cDNA encoding tyrosinase-related protein maps to the brown locus in mice
11. Homologous pigmentation mutations in human, mouse and other model organisms
12. Human AIM-1: cDNA cloning and reduced expression during endomitosis in megakaryocyte-lineage cells
13. Albinism
14. Isolation and sequence of a cDNA locus for human tyrosinase that maps at the mouse c-albino locus
15. +/myo-inositol cotransporter, a hypertonicity stress protein
16. The underwhite (uw) locus acts autonomously and reduces the production of melanin via a unique pathway
17. Sucrose transporters in plants: Update on function and structure
18. Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene
19. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)
20. Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2)
21. High-molecular weight forms of tyrosinase and the tyrosinase-related proteins: Evidence for a melanogenic complex
22. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population
23. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes
24. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
25. The AtSUC1 sucrose carrier may represent the osmotic driving force for anther dehiscence and pollen tube growth in Arabidopsis
26. A new allelic series for the underwhite gene on mouse chromosome 15
27. Cloning and tissue expression of the mouse ortholog of AIM1, a betagamma-crystallin superfamily member
28. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene
29. A second tyrosinase-related protein, TRP2, is a melanogenic enzyme termed DOPAchrome tautomerase
30. Living with water stress: Evolution of osmolyte systems