title: Lysosomal Trafficking Regulator (LYST).
abstract: Regulation of vesicle trafficking to lysosomes and lysosome-related organelles (LROs) as well as regulation of the size of these organelles are critical to maintain their functions. Disruption of the lysosomal trafficking regulator (LYST) results in Chediak-Higashi syndrome (CHS), a rare autosomal recessive disorder characterized by oculocutaneous albinism, prolonged bleeding, severe immunodeficiency, recurrent bacterial infection, neurologic dysfunction and hemophagocytic lympohistiocytosis (HLH). The classic diagnostic feature of the syndrome is enlarged LROs in all cell types, including lysosomes, melanosomes, cytolytic granules and platelet dense bodies. The most striking CHS ocular pathology observed is an enlargement of melanosomes in the retinal pigment epithelium (RPE), which leads to aberrant distribution of eye pigmentation, and results in photophobia and decreased visual acuity. Understanding the molecular function of LYST and identification of its interacting partners may provide therapeutic targets for CHS and other diseases associated with the regulation of LRO size and/or vesicle trafficking, such as asthma, urticaria and Leishmania amazonensis infections.
authors.affiliation: The Jackson Laboratory, 04609, Bar Harbor, ME, USA. xiaojie.ji@jax.org.|Graduate School of Biomedical Sciences and Engineering, University of Maine, 600 Main Street, Orono, USA. xiaojie.ji@jax.org.
authors.forename: Xiaojie
authors.initials: X
authors.lastname: Ji
authors.affiliation: The Jackson Laboratory, 04609, Bar Harbor, ME, USA. bo.chang@jax.org.
authors.forename: Bo
authors.initials: B
authors.lastname: Chang
authors.affiliation: The Jackson Laboratory, 04609, Bar Harbor, ME, USA. juergen.naggert@jax.org.
authors.forename: Jürgen K
authors.initials: JK
authors.lastname: Naggert
authors.affiliation: The Jackson Laboratory, 04609, Bar Harbor, ME, USA. pmn@jax.org.
authors.forename: Patsy M
authors.initials: PM
authors.lastname: Nishina
mesh_terms: D000818:Animals; D002609:Chediak-Higashi Syndrome / Q000378:metabolism / Q000503:physiopathology; D003594:Cytoplasmic Granules / Q000378:metabolism*; D006801:Humans; D008247:Lysosomes / Q000378:metabolism*; D020460:Melanosomes / Q000378:metabolism*; D015388:Organelles / Q000378:metabolism*; D020795:Photophobia / Q000378:metabolism / Q000503:physiopathology; D055213:Retinal Pigment Epithelium / Q000378:metabolism / Q000503:physiopathology; D033921:Vesicular Transport Proteins / Q000378:metabolism*; D014792:Visual Acuity
chemical_list: D033921:Vesicular Transport Proteins
keywords: Chediak-Higashi syndrome; Lysosomal trafficking regulator (LYST); Lysosome; Lysosome-related organelles; Melanosome; Retinal Pigment Epithelium (RPE); Vesicle trafficking