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^*

^*Corresponding author for this work

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

57 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
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 - 21 Feb 2001
Externally published	Yes

Funding

Funders	Funder number
National Eye Institute	EY10199
Welch Foundation	I-1300
Eunice Kennedy Shriver National Institute of Child Health and Human Development	Z01HD000131

Keywords

Hermansky-Pudlak syndrome
Lysosomal delivery
Pigmentation

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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",

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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.

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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.

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

Abstract

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Keywords

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