Molecular analysis of the PArkin co-regulated gene and association with male infertility.
OBJECTIVE
To investigate the potential role of PArkin co-regulated gene (PACRG) in human male infertility.


METHODS
Case-control study.


METHODS
Academic reproductive biology department.


METHODS
Blood samples were obtained from 610 patients and 156 normal control subjects.


METHODS
Genomic DNA was used as template for polymerase chain reaction amplification of the PACRG promoter and coding exons. The amplified fragments were tested for DNA sequence variations by direct sequencing and restriction enzyme analysis.


METHODS
Gene structure and sequence alterations of PACRG in infertile male patients.


RESULTS
The structure of PACRG was determined to comprise 5 coding exons, generating a single transcript in the testis which encoded a predicted protein of 257 amino acids. No pathogenic mutations were identified; however, a variant in the promoter of PACRG was shown to be significantly associated with azoospermia, but not oligospermia, in the case-control cohort.


CONCLUSIONS
Mutation of PACRG was not identified as a cause of male infertility, but variation in the promoter was demonstrated to be a risk factor associated with azoospermia.
Wilson
Gabrielle R
GR
Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, 3052, Victoria, Australia.
Sim
Marcus L-J
ML
Brody
Kate M
KM
Taylor
Juliet M
JM
McLachlan
Robert I
RI
O'Bryan
Moira K
MK
Delatycki
Martin B
MB
Lockhart
Paul J
PJ
D001483:Base Sequence; D016022:Case-Control Studies; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008840:Microfilament Proteins; D018832:Molecular Chaperones / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D013737:Testis / Q000378:metabolism
D008840:Microfilament Proteins; D018832:Molecular Chaperones; C471711:PACRG protein, human