Mutations participating in interallelic complementation in propionic acidemia

Am J Hum Genet. 1994 Jul;55(1):51-8.

Abstract

Deficiency of propionyl-CoA carboxylase (PCC; alpha 4 beta 4) results in the rare, autosomal recessive disease propionic acidemia. Cell fusion experiments have revealed two complementation groups, pccA and pccB, corresponding to defects of the PCCA (alpha-subunit) and PCCB (beta-subunit) genes, respectively. The pccBCC group includes subgroups, pccB and pccC, which are thought to reflect interallelic complementation between certain mutations of the PCCB gene. In this study, we have identified the mutations in two pccB, one pccC, and two pccBC cell lines and have deduced those alleles participating in interallelic complementation. One pccB line was a compound heterozygote of Pro228Leu and Asn536Asp. The latter mutation was also detected in a noncomplementing pccBC line. This leaves Pro228Leu responsible for complementation in the pccB cells. The second pccB line contained an insertional duplication, dupKICK140-143, and a splice mutation IVS + 1 G-->T, located after Lys466. We suggest that the dupKICK mutation is the complementing allele, since the second allele is incompatible with normal splicing. The pccC line studied was homozygous for Arg410Trp, which is necessarily the complementing allele in that line. For a second pccC line, we previously had proposed that delta Ile408 was the complementing allele. We now show that its second allele, "Ins.Del," a 14-bp deletion replaced by a 12-bp insertion beginning at codon 407, fails to complement in homozygous form. We conclude that the interallelic complementation results from mutations in domains that can interact between beta-subunits in the PCC heteromer to restore enzymatic function. On the basis of sequence homology with the Propionibacterium shermanii transcarboxylase 12S subunit, we suggest that the pccC domain, defined by Ile408 and Arg410, may involve the propionyl-CoA binding site.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Binding Sites
  • Carboxy-Lyases / chemistry
  • Carboxy-Lyases / deficiency
  • Carboxy-Lyases / genetics*
  • Cell Line
  • Conserved Sequence
  • DNA Mutational Analysis
  • Frameshift Mutation
  • Genetic Complementation Test
  • Humans
  • Methylmalonyl-CoA Decarboxylase
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Mutation*
  • Point Mutation
  • Propionates / blood*
  • Propionibacterium / genetics
  • Sequence Deletion
  • Sequence Homology, Amino Acid
  • Suppression, Genetic

Substances

  • Propionates
  • Carboxy-Lyases
  • Methylmalonyl-CoA Decarboxylase