Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility

S. Larriba, L. Bassas, S. Egozcue, J. Giménez, M. D. Ramos, O. Briceño, Xavier P. Estivill, T. Casals

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)394-400
Number of pages7
JournalBiology of Reproduction
Volume65
Issue number2
Publication statusPublished - 2001
Externally publishedYes

Fingerprint

Male Infertility
Cystic Fibrosis
Adenosine Triphosphate
Gene Expression
Regulator Genes
Testis
Mutation
Intestines
Oligospermia
Azoospermia
ATP-Binding Cassette Transporters
Spermatogenesis
Infertility
Genes
Reverse Transcription
Anions
Rodentia
Colon
Epithelial Cells
Binding Sites

Keywords

  • Gene regulation
  • Male reproductive tract
  • Testis

ASJC Scopus subject areas

  • Cell Biology

Cite this

Larriba, S., Bassas, L., Egozcue, S., Giménez, J., Ramos, M. D., Briceño, O., ... Casals, T. (2001). Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility. Biology of Reproduction, 65(2), 394-400.

Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility. / Larriba, S.; Bassas, L.; Egozcue, S.; Giménez, J.; Ramos, M. D.; Briceño, O.; Estivill, Xavier P.; Casals, T.

In: Biology of Reproduction, Vol. 65, No. 2, 2001, p. 394-400.

Research output: Contribution to journalArticle

Larriba, S, Bassas, L, Egozcue, S, Giménez, J, Ramos, MD, Briceño, O, Estivill, XP & Casals, T 2001, 'Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility', Biology of Reproduction, vol. 65, no. 2, pp. 394-400.
Larriba S, Bassas L, Egozcue S, Giménez J, Ramos MD, Briceño O et al. Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility. Biology of Reproduction. 2001;65(2):394-400.
Larriba, S. ; Bassas, L. ; Egozcue, S. ; Giménez, J. ; Ramos, M. D. ; Briceño, O. ; Estivill, Xavier P. ; Casals, T. / Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility. In: Biology of Reproduction. 2001 ; Vol. 65, No. 2. pp. 394-400.
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