Abstract for presentation at 11th International Congress of Human Genetics

Data Integration in Gene-Oriented Files of Hermansky-Pudlak Syndrome Database

  • Dr Wei Li, Institute of Genetics & Developmental Biology, Chinese Academy of Sciences, Beijing, China
  • Min He, Institute of Genetics & Developmental Biology, Chinese Academy of Sciences, Beijing, China
  • Helin Zhou, Institute of Genetics & Developmental Biology, Chinese Academy of Sciences, Beijing, China
  • Jonathan Bourne, Department of Physiology, Biophysics, and Systems Biology, Weill Medical College of Cornell University, New York, United States
  • Dr Ping Liang, Department of Cancer Genetics, Roswell Park Cancer Institute, New York, United States

    • Hermansky-Pudlak Syndrome (HPS; OMIM 203300) is a genetically heterogeneous disorder characterized by oculocutaneous albinism and prolonged bleeding due to abnormal vesicle trafficking to lysosomes and related organelles such as melanosomes and platelet dense granules. This HPS database (HPSD; http://liweilab.genetics.ac.cn/HPSD/) provides integrated, annotative, and curative data that is distributed in a variety of public databases or predicted by bioinformatics servers for the recently cloned human (HPS1~HPS8) and mouse HPS genes, as well as the genes responsible for HPS-related syndromes, such as Chediak-Higashi Syndrome (CHS), Griscelli syndrome (GS), oculocutaneous albinism (OCA), Usher syndrome type 1B (USH1B), and ocular albinism (OA). The HPSD is designed by using a unique Gene-Oriented File (GOF) format. Seven blocks (genomic, transcript, protein, function, mutation, phenotype, and reference) are carefully annotated in each user-friendly GOF entry. The HPSD emphasizes paired human and mouse GOF entries. The genes included in this database (currently 58 in total) are arbitrarily divided into four categories: (1) Human and Mouse HPS, (2) Mouse HPS Only, (3) Putative Mouse or Human HPS, (4) HPS Related Syndromes. All the mutations in these genes are integrated in the GOFs. Each GOF could be regarded as an updated mini-review to each gene. This database will provide useful resources for the emerging interdisciplinary studies of traffic jams and hypopigmentation in mammalian cells.

    Conference Organiser - ICMS Pty Ltd