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PMID: 7361761 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Kinetic analysis of genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts.

American journal of human genetics ·Vol. 32 ·No. 1 ·1980-01-00 ·Pages 16-25

Wolf B, Willard HF, Rosenberg LE

Abstract

We studied genetic complementation of propionyl CoA carboxylase (PCC) deficiency in cultures of polyethylene glycol (PEG)-induced heterokaryons, using mutant fibroblast lines assigned to five mutant classes, designated bio, pcc A, pcc B, pcc C, and pcc BC. By measuring PCC activity directly in extracts of fused cells or indirectly in intact cells by [1-14C]propionate utilization, we confirmed the nonlinear nature of the PCC deficiency complementation map described by Gravel et al. [1]. When we studied the kinetics of complementation, we detected three distinct patterns using the [1-14C]propionate utilization assay. When either pcc A or pcc C lines were fused to bio cells, 14C-fixation increased to half of the maximally restored values within 4 hrs. In pcc A x pcc C crosses or in pcc A x pcc B crosses, however, complementation was much slower. In fusions between pcc B and pcc C cells, a third pattern was elicited; complementation was incomplete, maximum restoration of PCC activity begin less than 20% of that observed in other complementing crosses. From these data and previous biochemical evidence, we suggest (1) that the bio and pcc mutations affect different genes; (2) that complementation between pcc A and either pcc B, pcc C, or pcc BC lines is intergenic and involves subunit exchange and synthesis of new PCC molecules; and (3) that complementation between pcc B and pcc C mutants is interallelic.

MeSH Terms
Carbon-Carbon Ligases Cells, Cultured Fibroblasts/enzymology Genetic Complementation Test Heterozygote Humans Ligases/deficiency,genetics Mutation
Chemicals
Ligases Carbon-Carbon Ligases propionyl CoA carboxylase (ATP-hydrolyzing)
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Wolf B
Willard H F
Rosenberg L E
References (18)
18 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1980-01-00
Pages
16-25
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1685923
Subset
IM
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