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The role of the ATPases PEX1 and PEX...

Collins, Cynthia Suzanne.

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The role of the ATPases PEX1 and PEX6 in peroxisome biogenesis and human disease.

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
正題名/作者:	The role of the ATPases PEX1 and PEX6 in peroxisome biogenesis and human disease./
作者:	Collins, Cynthia Suzanne.
面頁冊數:	150 p.
附註:	Adviser: Stephen J. Gould.
Contained By:	Dissertation Abstracts International63-03B.
標題:	Biology, Cell. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3046435
ISBN:	0493606254

The role of the ATPases PEX1 and PEX6 in peroxisome biogenesis and human disease.
Collins, Cynthia Suzanne.

The role of the ATPases PEX1 and PEX6 in peroxisome biogenesis and human disease. - 150 p.

Adviser: Stephen J. Gould.

Thesis (Ph.D.)--The Johns Hopkins University, 2002.

The peroxisome is a single membrane bound organelle found in almost all eukaryotic cells. It is not part of the secretory system and its varied metabolic functions are dependent on a functional peroxisomal protein import pathway. To date, over twenty genes necessary for peroxisome biogenesis (“<italic> PEX</italic>”) have been identified in a variety of different species. These genes are evolutionarily conserved, and mutations in their human homologs are the underlying cause of the human peroxisome biogenesis disorders (PBDs), a set of rare autosomal recessive diseases. Conceptually, there are three basic steps of peroxisome biogenesis: (1) the peroxisome membrane must form, (2) peroxisomal membrane proteins must be post-translationally inserted into the initial membrane structure, and (3) peroxisomal matrix enzymes must be post-translationally inserted into the peroxisome lumen.

ISBN: 0493606254Subjects--Topical Terms:

1017686
Biology, Cell.

The role of the ATPases PEX1 and PEX6 in peroxisome biogenesis and human disease.
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245 1 0 $a The role of the ATPases PEX1 and PEX6 in peroxisome biogenesis and human disease.
300 $a 150 p.
500 $a Adviser: Stephen J. Gould.
500 $a Source: Dissertation Abstracts International, Volume: 63-03, Section: B, page: 1118.
502 $a Thesis (Ph.D.)--The Johns Hopkins University, 2002.
520 $a The peroxisome is a single membrane bound organelle found in almost all eukaryotic cells. It is not part of the secretory system and its varied metabolic functions are dependent on a functional peroxisomal protein import pathway. To date, over twenty genes necessary for peroxisome biogenesis (“<italic> PEX</italic>”) have been identified in a variety of different species. These genes are evolutionarily conserved, and mutations in their human homologs are the underlying cause of the human peroxisome biogenesis disorders (PBDs), a set of rare autosomal recessive diseases. Conceptually, there are three basic steps of peroxisome biogenesis: (1) the peroxisome membrane must form, (2) peroxisomal membrane proteins must be post-translationally inserted into the initial membrane structure, and (3) peroxisomal matrix enzymes must be post-translationally inserted into the peroxisome lumen.
520 $a My project has focused on the role of PEX1 and PEX6 in peroxisome biogenesis. PEX1 and PEX6 physically interact with each other and are members of the AAA ATPase family. AAA ATPases have many diverse functions, but a common underlying theme seems to be their ability to dissociate protein complexes. I began this project by analyzing <italic>PEX1</italic> mutations in patients from the most common complementation group of the peroxisome biogenesis disorders, CG1. This study led to the identification of two common <italic>PEX1</italic> mutations in the CG1 patient population: the G843D missense mutation and the c.2097insT frameshift mutation. Significantly, these mutations each account for approximately 30% of all <italic>PEX1</italic> deficient alleles and haplotype evidence suggests that they are not linked.
520 $a As there is debate in the field over whether PEX1 and PEX6 are necessary for peroxisome membrane or peroxisome matrix protein import, I then switched to yeast as a model system in order to use epistasis analysis to place the point of action of <italic>PEX1</italic> and <italic>PEX6</italic> in peroxisome biogenesis. These results indicate that the action of <italic>PEX1</italic> and <italic>PEX6</italic> requires the action of <italic>PEX10</italic>, a peroxisomal membrane protein thought to be necessary for matrix enzyme translocation. As peroxisomal membrane biogenesis must occur before any steps of peroxisomal matrix protein import can take place, these results indicate that <italic> PEX1</italic> and <italic>PEX6</italic> are required for peroxisomal matrix protein import. This finding is consistent with the phenotype of <italic> pex1</italic> and <italic>pex6</italic> mutant cells.
520 $a Finally, I have been working on further characterizing the mechanistic role of PEX1 and PEX6 in peroxisomal matrix protein import. Localization studies suggest that human PEX1 has a bimodal distribution between the cytosol and the peroxisome, and that cytosolic yeast PEX1 and PEX6 sediment at high centrifugation speeds in an ATP dependent, detergent independent manner. These results are consistent with PEX1 and PEX6 being part of a large protein complex. The future identification of this potential complex and its components will increase our understanding of how PEX1 and PEX6 facilitate peroxisomal matrix protein import.
590 $a School code: 0098.
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650 4 $a Biology, Genetics. $3 1017730
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