PMID: 9182823Jun 1, 1997Paper

Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene

The Journal of Investigative Dermatology
T BailinRichard A Spritz

Abstract

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding tendency, and lysosomal ceroid storage disease, associated with defects of multiple cytoplasmic organelles-melanosomes, platelet-dense granules, and lysosomes. HPS is frequently fatal and is the most common single-gene disorder in Puerto Rico. We previously characterized the human HPS cDNA and identified pathologic mutations in the gene in patients with HPS. The HPS protein is a novel apparent transmembrane polypeptide that seems to be crucial for normal organellar development. Here we describe the structural organization, nucleotide sequence, and polymorphisms of the human HPS gene. The gene consists of 20 exons spanning about 30.5 kb in chromosome segment 10q23.1-q23.3. One of the intervening sequences is a member of the novel, very rare class of so-called "AT-AC" introns, defined by highly atypical 5' and 3' splice site and branch site consensus sequences that provide novel targets for possible pathologic gene mutations. This information provides the basis for molecular analyses of patients with HPS and will greatly facilitate diagnosis and carrier detection of this severe disorder.

Citations

Jul 28, 1999·Clinical Genetics·R A Spritz
Sep 6, 2000·The British Journal of Dermatology·T HorikawaM Ichihashi
Sep 20, 2002·AJR. American Journal of Roentgenology·Nilo A AvilaWilliam A Gahl
Aug 12, 2005·Internal Medicine·Jun IwakawaKimiyoshi Arimura
Apr 29, 2014·Ophthalmic Genetics·Javier JardónCarmen L Cadilla
May 19, 1998·Pigment Cell Research·R T SwankL Feng
Dec 11, 1999·Current Opinion in Pediatrics·W S Oetting
Jul 29, 2010·Clinical Genetics·C Carmona-RiveraM Huizing
Oct 21, 1999·Molecular Genetics and Metabolism·W IntroneW A Gahl
Sep 18, 1998·The Journal of Investigative Dermatology·K U SchallreuterM R Pittelkow
Oct 28, 2006·The Journal of Investigative Dermatology·Thuyen Nguyen, Maria L Wei

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