title: Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA.
abstract: BACKGROUND
  Oculocutaneous albinisms (OCAs) are due to various gene mutations that cause a disruption of melanogenesis in the melanocyte. Four different genes associated with human OCA have been reported, however, not all of OCA patients can be classified according to these four genes. We have sought to find a new major locus for Japanese OCA. Recently two genes, RAB38 and RAB7, were reported to play an important role in melanogenesis in the melanocyte, suggesting that these two genes could be good candidates for new OCA loci.
  
  
  OBJECTIVE
  To determine the structures of the human RAB38 and RAB7 genes, and examine if the two genes are new major loci for Japanese OCA.
  
  
  METHODS
  We screened mutations in these genes of 25 Japanese OCA patients who lacked mutations in the OCA1 and OCA2 genes with SSCP/heteroduplexes method.
  
  
  RESULTS
  We determined the both genes, and their genomic organizations to design the primers for SSCP/heteroduplexes method. And then we screened mutations, but no mutation was detected.
  
  
  CONCLUSIONS
  Neither of the genes is a new major locus for Japanese OCA.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, 466-8550, Nagoya, Japan. tsauzuki@med.nagoya-u.ac.jp
authors.forename: Tamio
authors.initials: T
authors.lastname: Suzuki
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Miyamura
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Inagaki
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Tomita
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D020180:Heteroduplex Analysis; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018807:Polymorphism, Single-Stranded Conformational; D020691:rab GTP-Binding Proteins / Q000235:genetics*; D000090802:rab7 GTP-Binding Proteins
chemical_list: D018076:DNA, Complementary; D000090802:rab7 GTP-Binding Proteins; C000716463:rab7 GTP-binding proteins, human; C412058:RAB38 protein, human; D020691:rab GTP-Binding Proteins