Document Detail


Systematic isolation and characterization of cDNAs encoding AAA proteins from human brain.
MedLine Citation:
PMID:  17425157     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: The AAA (ATPases Associated with various cellular Activities) domain characterizes a diverse superfamily of proteins. Mutations in genes encoding AAA-domains cause a variety of human diseases including cystic fibrosis, Zellweger syndrome, adrenomyeloneuropathy, and dystonia. Recently, mutations in two AAA-containing proteins paraplegin and spastin have been shown to cause two types of hereditary spastic paraplegia (HSP). The HSPs are genetically heterogeneous degenerative spinal cord disorders characterized by lower extremity weakness and spasticity. Clinical similarity between various genetic types of HSP led us to propose that different genetic types of HSP were due to common biochemical abnormalities including disturbances in related proteins. For this reason, we sought to identify novel AAA-containing proteins as potential candidates for HSP and related neurodegnerative disorders. We used degenerative PCR, based on the conserved AAA peptide sequence to systematically clone and characterize AAA genes expressed in human brain. RESULTS: We analyzed 646 clones and identified 19 known AAA-containing proteins including spastin and paraplegin, AAA-containing genes that cause HSP. In addition, we identified 14 unique DNA inserts representing novel putative AAA-containing proteins. Four of these novel genes are hypothetical AAA proteins and the rest of novel clones matched sequences of yet uncharacterized expressed sequence tags (ESTs). CONCLUSION: Fourteen novel AAA-containing proteins are potential candidates for human diseases including degenerative neurologic disorders, and their further analysis is ongoing (Tab. 1, Fig. 1, Ref. 22).
Authors:
Xinping Zhao; P Hedera; J K Fink
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.    
Journal Detail:
Title:  Bratislavské lekárske listy     Volume:  107     ISSN:  0006-9248     ISO Abbreviation:  Bratisl Lek Listy     Publication Date:  2006  
Date Detail:
Created Date:  2007-04-11     Completed Date:  2007-06-07     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0065324     Medline TA:  Bratisl Lek Listy     Country:  Slovakia    
Other Details:
Languages:  eng     Pagination:  418-21     Citation Subset:  IM    
Affiliation:
Department of Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.
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MeSH Terms
Descriptor/Qualifier:
Adenosine Triphosphatases / genetics*
Amino Acid Sequence
Brain / metabolism*
Cloning, Molecular
Consensus Sequence
Conserved Sequence
DNA, Complementary / genetics*
Heredodegenerative Disorders, Nervous System / genetics
Humans
Nerve Tissue Proteins / genetics*
Spastic Paraplegia, Hereditary / genetics
Grant Support
ID/Acronym/Agency:
K08NS42743/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Complementary; 0/Nerve Tissue Proteins; EC 3.6.1.-/Adenosine Triphosphatases

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