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Adenosine Triphosphate-Binding Cassette Superfamily Transporter Gene Expression in Severe Male Infertility
Ist Teil von
Biology of reproduction, 2001-08, Vol.65 (2), p.394-400
Ort / Verlag
Madison, WI: Society for the Study of Reproduction
Erscheinungsjahr
2001
Quelle
MEDLINE
Beschreibungen/Notizen
Cystic fibrosis transmembrane regulator (CFTR), multidrug-resistant (MDR)1, and multidrug resistance-associated (MRP) proteins
belong to the ATP-binding cassette (ABC) transporter superfamily. A compensatory regulation of MDR1 and CFTR gene expression has been observed in CFTR knockout rodent intestine and in an epithelial cell line of human colon, whereas a high homology and similar anion binding
site are shared by MRP and CFTR proteins. To provide better insight into the relationship among the expression behavior in
vivo of the three genes in human testis, analysis of MDR1 and MRP gene expression in testicular biopsies was performed and related to the presence of CFTR gene mutations in congenital absence of the vas deferens (CAVD: n = 20) and non-CAVD (n = 30) infertile patients with azoospermia
or severe oligozoospermia. A CFTR mutation analysis performed in both groups of patients supported the involvement of CFTR gene mutations in CAVD phenotype (85%) and in defective spermatogenesis (19%). Quantitative reverse transcription-polymerase
chain reaction analysis of testicular tissue showed a CFTR-independent MDR1 and MRP gene expression in human testis, suggesting that the mechanisms underlying CFTR gene regulation in testis are different from those in intestine. These findings should contribute to the understanding of
patterns of in vivo expression of CFTR, MDR1, and MRP genes in CFTR -related infertility.