title: C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.
abstract: Rhizomelic Chondrodysplasia Punctata (RCDP) type 1 is a peroxisomal biogenesis disorder with a genetic abnormality in PEX7 gene. In the present study, mutational analysis was performed on two Iranian RCDP patients with distinct clinical phonotype. Mutation detection was carried out by sequencing of RT-PCR product consisting the whole length of PEX7 cDNA. Sequence data revealed the same missense homozygous mutation of G to A at nucleotide 257 in exon3 of PEX7 coding sequence in both patients. Moreover, genomic analysis of the PEX7 gene confirmed the RT-PCR data. This mutation caused one amino acid residue substitution of Cys to Tyr at codon 86 located on WD1 repeat domain region of Pex7p, which severely affected the functionality of PEX7 protein. Back-transfection of vector encoding mutant Pex7p did not restore the normal peroxisomal function in RCDP patient's fibroblast cells dissimilar to the native type of PEX7.
authors: Department of Cell and Molecular Biology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran.
authors: Ahmad
authors: A
authors: Salamian
authors: Parisa
authors: P
authors: Mohamadynejad
authors: Kamran
authors: K
authors: Ghaedi
authors: Alireza Shoaraye
authors: AS
authors: Nejati
authors: Yousef
authors: Y
authors: Shafeghati
authors: Mehdi Borhani
authors: MB
authors: Ahnak
authors: Marzieh
authors: M
authors: Nematollahi
authors: Khadijeh
authors: K
authors: Karbalaie
authors: Fatemeh
authors: F
authors: Hadipour
authors: Hossein
authors: H
authors: Baharvand
authors: Mohammad Hossein
authors: MH
authors: Nasr-Esfahani
mesh_terms: D000102:Acetyl-CoA C-Acyltransferase / Q000378:metabolism; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D050505:Mutant Proteins / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D000074437:Peroxisomal Targeting Signal 2 Receptor / Q000172:deficiency; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*
chemical_list: D050505:Mutant Proteins; C000614269:PEX7 protein, human; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear; D000102:Acetyl-CoA C-Acyltransferase