2005 Fiscal Year Final Research Report Summary
Functional analyses of the genes in which mutations cause hereditary pigment disorders
| Project/Area Number |
16591095
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Nagoya University |
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Principal Investigator |
SUZUKI Tamio Nagoya University, Graduate School of Medicine, Associate Professor, 大学院・医学系研究科, 助教授 (30206502)
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| Co-Investigator(Kenkyū-buntansha) |
TOMITA Yasushi Nagoya University, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (70108512)
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| Project Period (FY) |
2004 – 2005
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| Keywords | Oculocutaneous albinism / Hermansky-Pudlak syndrome / melanin / melanosome / albino / hereditary pigment disorders / Dyschromatosis symmetrica hereditaria / membrane traffic |
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| Research Abstract |
We have investigated the regulation mechanisms of melanogenesis and biosynthesis of melanosomes with both of clinical and basic methods. Here, we focus three diseases below from many hereditary pigment disorders.
1. Oculocutaneous albinism type 4 (OCA4) : MATP was recently reported in a single Turkish OCA patient as the fourth pathological gene, but no other patients with OCA4 have been reported. We reported the mutational profile of OCA4, determined by genetic analysis of the MATP gene in a large Japanese population with OCA. Of75 unrelated patients that were screened, 18 individuals (24%) were identified as having OCA4 ; they harbored seven novel mutations.
2. Hermansky-Pudlak syndrome (HPS) : We described the analysis of the HPS1 gene in 24 Japanese OCA patients who lacked mutations in the four genes known to cause OCA and the identification of eight different HPS1 mutations in ten of these patients, four of which were novel.
3. Dyschromatosis symmetrica hereditaria (DSH) : We reported 16 novel mutations in ADAR1 gene found in Japanese patients with DSH. We did not establish any clear correlation between the clinical phenotypes and the genotypes of ADAR1 gene mutations in our examination of 16 cases plus four pedigrees, which we had previously reported. Furthermore, we did not identify any mutations in the ADAR1 gene of three patients with dyschromatosis universalis hereditaria or three patients with acropigmentatio reticularis, indicating that the two diseases are completely different from DSH.
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