Alternatively spliced variants of the follicle-stimulating hormone receptor gene in the testis of infertile men.
OBJECTIVE
To investigate whether or not alternatively spliced variants of the FSH receptor gene occur in human testis and whether the presence of the splicing variants is associated with spermatogenic defects and serum FSH concentration in infertile men.


METHODS
A prospective case control study.


METHODS
An IVF clinic and infertility laboratory at a university hospital.


METHODS
Forty-three infertile patients undergoing testicular biopsy.


METHODS
Total RNA was extracted from the testicular tissues and used for reverse transcriptase-polymerase chain reaction (RT-PCR).


METHODS
Expression pattern was analyzed by nested RT-PCR using primers designed to amplify a fragment of FSH receptor gene. PCR products of splicing variants were cloned and sequenced.


RESULTS
The PCR products showed three kinds of additional bands corresponding to alternatively spliced isoforms of the FSH receptor gene. Exon 9 deleted variant was detected in all patients and inclusion variant of small extra exon was detected in 64% (9/14) of the patients with normal spermatogenesis and 34% (10/29) of the patients with spermatogenic defects. The presence of inclusion variant was not significantly associated with spermatogenic defects but was associated with a low level of serum FSH. On the other hand, exon 6 deleted variant was detected in only one patient having a high level of FSH concentration (30 IU/L) and Sertoli cell only syndrome.


CONCLUSIONS
We identified three different types of alternatively spliced variants of the human FSH receptor. However, it is not clear whether or not there is an association between three variants and spermatogenic defects.
Song
Gyun Jee
GJ
Research Laboratory of Reproductive Biology and Infertility, Samsung Cheil Hospial and Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, South Korea. phdsong@samsung.co.jp
Park
Yong-Seog
YS
Lee
You Sik
YS
Lee
Chung Choo
CC
Kang
Inn Soo
IS
D017398:Alternative Splicing / Q000235:genetics* / Q000502:physiology; D001483:Base Sequence; D001706:Biopsy; D016022:Case-Control Studies; D004247:DNA / Q000737:chemistry; D004587:Electrophoresis, Agar Gel; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007248:Infertility, Male / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D008969:Molecular Sequence Data; D011446:Prospective Studies; D012313:RNA / Q000235:genetics / Q000378:metabolism; D011962:Receptors, FSH / Q000096:biosynthesis / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013737:Testis / Q000378:metabolism* / Q000473:pathology; D013739:Testosterone / Q000097:blood
D011962:Receptors, FSH; D013739:Testosterone; D012313:RNA; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D004247:DNA