Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33

Marjan Huizing; Aaron Didier; Jason Walenta; Yair Anikster; William A. Gahl; Helmut Krämer

doi:10.1016/S0378-1119(01)00333-X

Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33

Marjan Huizing, Aaron Didier, Jason Walenta, Yair Anikster, William A. Gahl, Helmut Krämer

Research output: Contribution to journal › Article › peer-review

56 Scopus citations

Abstract

In multicellular organisms, the delivery of proteins to lysosomes is essential. Many of the genes necessary for this process have first been identified by their requirement for vacuolar delivery in yeast. A subset of these genes, the four class C vps genes, is necessary for the delivery of endocytic and biosynthetic cargo in yeast, and also in Drosophila. Here, we describe the sequence and expression pattern of four human homologs of these genes. This initial molecular description of these four genes is an important step towards their evaluation as candidate genes that may be involved in the pathogenesis of Hermansky-Pudlak syndrome-related diseases.

Original language	English (US)
Pages (from-to)	241-247
Number of pages	7
Journal	Gene
Volume	264
Issue number	2
DOIs	https://doi.org/10.1016/S0378-1119(01)00333-X
State	Published - Feb 21 2001

Keywords

Hermansky-Pudlak syndrome
Lysosomal delivery
Pigmentation

ASJC Scopus subject areas

Genetics

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10.1016/S0378-1119(01)00333-X

Cite this

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title = "Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33",

abstract = "In multicellular organisms, the delivery of proteins to lysosomes is essential. Many of the genes necessary for this process have first been identified by their requirement for vacuolar delivery in yeast. A subset of these genes, the four class C vps genes, is necessary for the delivery of endocytic and biosynthetic cargo in yeast, and also in Drosophila. Here, we describe the sequence and expression pattern of four human homologs of these genes. This initial molecular description of these four genes is an important step towards their evaluation as candidate genes that may be involved in the pathogenesis of Hermansky-Pudlak syndrome-related diseases.",

keywords = "Hermansky-Pudlak syndrome, Lysosomal delivery, Pigmentation",

author = "Marjan Huizing and Aaron Didier and Jason Walenta and Yair Anikster and Gahl, {William A.} and Helmut Kr{\"a}mer",

note = "Funding Information: We would like to thank Chihiro Akazawa for sharing data before publication. This work was supported by grants from the NEI (EY10199) and the Welch Foundation (I-1300) for H.K.",

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doi = "10.1016/S0378-1119(01)00333-X",

language = "English (US)",

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T1 - Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33

AU - Huizing, Marjan

AU - Didier, Aaron

AU - Walenta, Jason

AU - Anikster, Yair

AU - Gahl, William A.

AU - Krämer, Helmut

N1 - Funding Information: We would like to thank Chihiro Akazawa for sharing data before publication. This work was supported by grants from the NEI (EY10199) and the Welch Foundation (I-1300) for H.K.

PY - 2001/2/21

Y1 - 2001/2/21

N2 - In multicellular organisms, the delivery of proteins to lysosomes is essential. Many of the genes necessary for this process have first been identified by their requirement for vacuolar delivery in yeast. A subset of these genes, the four class C vps genes, is necessary for the delivery of endocytic and biosynthetic cargo in yeast, and also in Drosophila. Here, we describe the sequence and expression pattern of four human homologs of these genes. This initial molecular description of these four genes is an important step towards their evaluation as candidate genes that may be involved in the pathogenesis of Hermansky-Pudlak syndrome-related diseases.

AB - In multicellular organisms, the delivery of proteins to lysosomes is essential. Many of the genes necessary for this process have first been identified by their requirement for vacuolar delivery in yeast. A subset of these genes, the four class C vps genes, is necessary for the delivery of endocytic and biosynthetic cargo in yeast, and also in Drosophila. Here, we describe the sequence and expression pattern of four human homologs of these genes. This initial molecular description of these four genes is an important step towards their evaluation as candidate genes that may be involved in the pathogenesis of Hermansky-Pudlak syndrome-related diseases.

KW - Hermansky-Pudlak syndrome

KW - Lysosomal delivery

KW - Pigmentation

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JO - Gene

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Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33

Abstract

Keywords

ASJC Scopus subject areas

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