Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico

Scott C. Wildenberg, James P. Fryer, John M. Gardner, William S. Oetting, Murray H. Brilliant, Richard A. King

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Hermansky-Pudlak Syndrome (HPS) is a rare, autosomal recessive disorder that is characterized by oculocutaneous albinism, a predisposition to mild bleeding caused by storage-pool deficient platelets, and a ceroid storage disorder. A gene responsible for HPS in Puerto Rico maps to chromosome 10q2 and isolation of the gene has been reported. We have now identified a variant HPS cDNA that contains the same 5' sequence as the published HPS gene and a unique 3' sequence. Analysis of genomic DNA suggests that the two cDNA are derived from alternative transcripts of a single gene; two polyadenylated transcripts were found in normal human melanocytes, human bone marrow cells, human melanoma cells, lymphoblastoid cell lines, and megakaryocytic leukemia cells by reverse transcriptase polymerase chain reaction and northern analysis. The splicing exhibited by this gene is identical to the splicing found to produce two alternative transcripts of the Chediak-Higashi Syndrome gene, another pigment disorder exhibiting platelet storage pool deficiency. These studies show that the HPS gene on chromosome 10 is complex and may have more than one biologically active transcript.

Original languageEnglish (US)
Pages (from-to)777-781
Number of pages5
JournalJournal of Investigative Dermatology
Issue number5
StatePublished - 1998

Bibliographical note

Funding Information:
We would like to thank Dr. Harry Orr, Dr. Timothy Behrens, and Dr. Lynne Maquat for their helpful discussions and advice, and the HPS Network for their continued support. We also gratefully acknowledge Jen-I Mao from the Genome Therapeutics Corporation for providing contig and physical mapping information. This research was supported by NIH Grants #GM22167, #GM/AR56181, and #CA06927.


  • Gene cloning
  • HPS
  • Oculocutaneous albinism


Dive into the research topics of 'Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico'. Together they form a unique fingerprint.

Cite this