FABP9 Mutations Are Not Detected in Cases of Infertility due to Sperm Morphological Defects in Iranian Men
Background: Fatty acid binding proteins (FABPs) are members of the intracellular li- pid binding protein (iLBPs) family and most of them show tissue specific expression. FABP9/PERF15 (Perforatorial15) is the male germ cell-specific fatty acid-binding pro- tein. It was first identified as the majo...
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| Format: | Article |
| Language: | English |
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Royan Institute (ACECR), Tehran
2014-01-01
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| Series: | International Journal of Fertility and Sterility |
| Subjects: | |
| Online Access: | http://www.ijfs.ir/article_45204_616b90f1c8ba3ae931421bf4d081f9cc.pdf |
| _version_ | 1811295288676057088 |
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| author | Javad Jamshidi Farkhondeh Pouresmaeili Hossein Darvish Mir Davood Omrani Eznollah Azargashb Mohammad Reza Sadeghi Niknam Lakpour |
| author_facet | Javad Jamshidi Farkhondeh Pouresmaeili Hossein Darvish Mir Davood Omrani Eznollah Azargashb Mohammad Reza Sadeghi Niknam Lakpour |
| author_sort | Javad Jamshidi |
| collection | DOAJ |
| description | Background: Fatty acid binding proteins (FABPs) are members of the intracellular li- pid binding protein (iLBPs) family and most of them show tissue specific expression. FABP9/PERF15 (Perforatorial15) is the male germ cell-specific fatty acid-binding pro- tein. It was first identified as the major constituent of the murine sperm perforatorium and perinuclear theca. To date, investigations in mice have demonstrated that this protein has a role in the male reproductive system, especially in spermatogenesis. Also, it has been reported that FABP9 can protect sperm fatty acids from oxidative damage. Recently it was shown that it can affect sperm morphology in mice. Based on these findings, we designed a study to evaluate if mutations of this gene can affect sperm morphology in humans. Materials and Methods: In this case-control study, DNA was extracted from peripheral blood of 100 infertile males with normal sperm count but with a number of morphologi- cally abnormal sperms in their semen that was above normal. Four exons and one intron of the FABP9 gene were amplified by polymerase chain reaction (PCR), re-sequenced and then analyzed for mutation detection. Results: We did not detect any mutation in any area of the four exons, intron 3 and splice sites of FABP9 gene in any of the studied 100 samples. Conclusion: There was no mutation in the exonic regions and the poor sperm mor- phology. However, we didn’t analyze the promoter, intron 1 and 2 to establish conclusions regarding the association of these genic regions and sperm dysmor- phology. |
| first_indexed | 2024-04-13T05:30:05Z |
| format | Article |
| id | doaj.art-40f6ddbe0ccf455f8719961008fe2402 |
| institution | Directory Open Access Journal |
| issn | 2008-076X 2008-0778 |
| language | English |
| last_indexed | 2024-04-13T05:30:05Z |
| publishDate | 2014-01-01 |
| publisher | Royan Institute (ACECR), Tehran |
| record_format | Article |
| series | International Journal of Fertility and Sterility |
| spelling | doaj.art-40f6ddbe0ccf455f8719961008fe24022022-12-22T03:00:27ZengRoyan Institute (ACECR), TehranInternational Journal of Fertility and Sterility2008-076X2008-07782014-01-017427528045204FABP9 Mutations Are Not Detected in Cases of Infertility due to Sperm Morphological Defects in Iranian MenJavad Jamshidi0Farkhondeh Pouresmaeili1Hossein Darvish2Mir Davood Omrani3Eznollah Azargashb4Mohammad Reza Sadeghi5Niknam Lakpour6Department of Biochemistry, Fasa University of Medical Sciences, Fasa, IranDepartment of Medical Genetics, Infertility and Reproductive Health Research Center (IRHRC), Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IranDepartment of Medical Genetics, Infertility and Reproductive Health Research Center (IRHRC), Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IranDepartment of Medical Genetics, Infertility and Reproductive Health Research Center (IRHRC), Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IranDepartment of Community Medicine, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran4Monoclonal Antibody Research Center, Avicenna Research Institute, ACECR, Tehran, Iran5Nanobiotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, IranBackground: Fatty acid binding proteins (FABPs) are members of the intracellular li- pid binding protein (iLBPs) family and most of them show tissue specific expression. FABP9/PERF15 (Perforatorial15) is the male germ cell-specific fatty acid-binding pro- tein. It was first identified as the major constituent of the murine sperm perforatorium and perinuclear theca. To date, investigations in mice have demonstrated that this protein has a role in the male reproductive system, especially in spermatogenesis. Also, it has been reported that FABP9 can protect sperm fatty acids from oxidative damage. Recently it was shown that it can affect sperm morphology in mice. Based on these findings, we designed a study to evaluate if mutations of this gene can affect sperm morphology in humans. Materials and Methods: In this case-control study, DNA was extracted from peripheral blood of 100 infertile males with normal sperm count but with a number of morphologi- cally abnormal sperms in their semen that was above normal. Four exons and one intron of the FABP9 gene were amplified by polymerase chain reaction (PCR), re-sequenced and then analyzed for mutation detection. Results: We did not detect any mutation in any area of the four exons, intron 3 and splice sites of FABP9 gene in any of the studied 100 samples. Conclusion: There was no mutation in the exonic regions and the poor sperm mor- phology. However, we didn’t analyze the promoter, intron 1 and 2 to establish conclusions regarding the association of these genic regions and sperm dysmor- phology.http://www.ijfs.ir/article_45204_616b90f1c8ba3ae931421bf4d081f9cc.pdfmutationfertilitysperm |
| spellingShingle | Javad Jamshidi Farkhondeh Pouresmaeili Hossein Darvish Mir Davood Omrani Eznollah Azargashb Mohammad Reza Sadeghi Niknam Lakpour FABP9 Mutations Are Not Detected in Cases of Infertility due to Sperm Morphological Defects in Iranian Men International Journal of Fertility and Sterility mutation fertility sperm |
| title | FABP9 Mutations Are Not Detected in Cases of Infertility due to Sperm Morphological Defects in Iranian Men |
| title_full | FABP9 Mutations Are Not Detected in Cases of Infertility due to Sperm Morphological Defects in Iranian Men |
| title_fullStr | FABP9 Mutations Are Not Detected in Cases of Infertility due to Sperm Morphological Defects in Iranian Men |
| title_full_unstemmed | FABP9 Mutations Are Not Detected in Cases of Infertility due to Sperm Morphological Defects in Iranian Men |
| title_short | FABP9 Mutations Are Not Detected in Cases of Infertility due to Sperm Morphological Defects in Iranian Men |
| title_sort | fabp9 mutations are not detected in cases of infertility due to sperm morphological defects in iranian men |
| topic | mutation fertility sperm |
| url | http://www.ijfs.ir/article_45204_616b90f1c8ba3ae931421bf4d081f9cc.pdf |
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