Heterozygous deletion of exon 17 of the Kit gene impairs mouse spermatogenesis by attenuating MAPK-ERK signaling
Abstract Background A splice mutation that causes skipping of exon 17 in the KIT gene is a major reason for the dominant white phenotype of pigs. Exon 17 of the KIT gene may be related to differences in testis size and sperm quality among different pig breeds. Investigating the effects of exon 17 of...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-05-01
|
| Series: | Biological Research |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40659-025-00609-2 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850271849874718720 |
|---|---|
| author | Siyuan Lin Min Yang Weipeng Zhu Changqi Yang Yaosheng Chen Peiqing Cong Xiaohong Liu Zuyong He |
| author_facet | Siyuan Lin Min Yang Weipeng Zhu Changqi Yang Yaosheng Chen Peiqing Cong Xiaohong Liu Zuyong He |
| author_sort | Siyuan Lin |
| collection | DOAJ |
| description | Abstract Background A splice mutation that causes skipping of exon 17 in the KIT gene is a major reason for the dominant white phenotype of pigs. Exon 17 of the KIT gene may be related to differences in testis size and sperm quality among different pig breeds. Investigating the effects of exon 17 of the KIT gene on spermatogonia differentiation and testicular development is essential for understanding the genetic causes of reduced fertility and semen quality in pigs. To better understand the effects of the splice mutation of KIT on porcine spermatogenesis, we described an exon 17 deletion mouse model (Kit D17/+) constructed by simulating splice mutations in KIT for functional verification. Results Deletion of exon 17 of Kit severely impaired the differentiation of spermatogonia and promoted the apoptosis of germ cells, resulting in testicular dysplasia and decreased sperm quality and male fertility. Further transcriptomic analysis revealed inhibited expression of genes involved in meiosis and spermatogenesis and attenuated MAPK-ERK signaling in the testicular tissues of Kit D17/+ mice. The attenuated MAPK-ERK signaling caused by impaired Kit phosphorylation was confirmed by western blotting. Conclusions Our study demonstrated that deletion of exon 17 of Kit severely impaired spermatogenesis and testicular development, leading to decreased semen quality and male fertility. These findings verified the function of exon 17 in the Kit gene and provide a theoretical basis for improving the semen quality of dominant white pigs through correction of the splice mutation of KIT. |
| format | Article |
| id | doaj-art-90f874f830de4316ad906a90eb65264a |
| institution | OA Journals |
| issn | 0717-6287 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Biological Research |
| spelling | doaj-art-90f874f830de4316ad906a90eb65264a2025-08-20T01:52:03ZengBMCBiological Research0717-62872025-05-0158111310.1186/s40659-025-00609-2Heterozygous deletion of exon 17 of the Kit gene impairs mouse spermatogenesis by attenuating MAPK-ERK signalingSiyuan Lin0Min Yang1Weipeng Zhu2Changqi Yang3Yaosheng Chen4Peiqing Cong5Xiaohong Liu6Zuyong He7State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen UniversityState Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen UniversityState Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen UniversityState Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen UniversityState Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen UniversityState Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen UniversityState Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen UniversityState Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen UniversityAbstract Background A splice mutation that causes skipping of exon 17 in the KIT gene is a major reason for the dominant white phenotype of pigs. Exon 17 of the KIT gene may be related to differences in testis size and sperm quality among different pig breeds. Investigating the effects of exon 17 of the KIT gene on spermatogonia differentiation and testicular development is essential for understanding the genetic causes of reduced fertility and semen quality in pigs. To better understand the effects of the splice mutation of KIT on porcine spermatogenesis, we described an exon 17 deletion mouse model (Kit D17/+) constructed by simulating splice mutations in KIT for functional verification. Results Deletion of exon 17 of Kit severely impaired the differentiation of spermatogonia and promoted the apoptosis of germ cells, resulting in testicular dysplasia and decreased sperm quality and male fertility. Further transcriptomic analysis revealed inhibited expression of genes involved in meiosis and spermatogenesis and attenuated MAPK-ERK signaling in the testicular tissues of Kit D17/+ mice. The attenuated MAPK-ERK signaling caused by impaired Kit phosphorylation was confirmed by western blotting. Conclusions Our study demonstrated that deletion of exon 17 of Kit severely impaired spermatogenesis and testicular development, leading to decreased semen quality and male fertility. These findings verified the function of exon 17 in the Kit gene and provide a theoretical basis for improving the semen quality of dominant white pigs through correction of the splice mutation of KIT.https://doi.org/10.1186/s40659-025-00609-2KitExon 17Testicular developmentSpermatogenesis |
| spellingShingle | Siyuan Lin Min Yang Weipeng Zhu Changqi Yang Yaosheng Chen Peiqing Cong Xiaohong Liu Zuyong He Heterozygous deletion of exon 17 of the Kit gene impairs mouse spermatogenesis by attenuating MAPK-ERK signaling Biological Research Kit Exon 17 Testicular development Spermatogenesis |
| title | Heterozygous deletion of exon 17 of the Kit gene impairs mouse spermatogenesis by attenuating MAPK-ERK signaling |
| title_full | Heterozygous deletion of exon 17 of the Kit gene impairs mouse spermatogenesis by attenuating MAPK-ERK signaling |
| title_fullStr | Heterozygous deletion of exon 17 of the Kit gene impairs mouse spermatogenesis by attenuating MAPK-ERK signaling |
| title_full_unstemmed | Heterozygous deletion of exon 17 of the Kit gene impairs mouse spermatogenesis by attenuating MAPK-ERK signaling |
| title_short | Heterozygous deletion of exon 17 of the Kit gene impairs mouse spermatogenesis by attenuating MAPK-ERK signaling |
| title_sort | heterozygous deletion of exon 17 of the kit gene impairs mouse spermatogenesis by attenuating mapk erk signaling |
| topic | Kit Exon 17 Testicular development Spermatogenesis |
| url | https://doi.org/10.1186/s40659-025-00609-2 |
| work_keys_str_mv | AT siyuanlin heterozygousdeletionofexon17ofthekitgeneimpairsmousespermatogenesisbyattenuatingmapkerksignaling AT minyang heterozygousdeletionofexon17ofthekitgeneimpairsmousespermatogenesisbyattenuatingmapkerksignaling AT weipengzhu heterozygousdeletionofexon17ofthekitgeneimpairsmousespermatogenesisbyattenuatingmapkerksignaling AT changqiyang heterozygousdeletionofexon17ofthekitgeneimpairsmousespermatogenesisbyattenuatingmapkerksignaling AT yaoshengchen heterozygousdeletionofexon17ofthekitgeneimpairsmousespermatogenesisbyattenuatingmapkerksignaling AT peiqingcong heterozygousdeletionofexon17ofthekitgeneimpairsmousespermatogenesisbyattenuatingmapkerksignaling AT xiaohongliu heterozygousdeletionofexon17ofthekitgeneimpairsmousespermatogenesisbyattenuatingmapkerksignaling AT zuyonghe heterozygousdeletionofexon17ofthekitgeneimpairsmousespermatogenesisbyattenuatingmapkerksignaling |