Single-cell RNA-seq and pathological phenotype reveal the functional atlas and precise roles of Sox30 in testicular cell development and differentiation

Abstract Sox30 has recently been demonstrated to be a key regulator of spermatogenesis. However, the precise roles of Sox30 in the testis remain largely unclear. Here, the specific functions of Sox30 in testicular cells were determined by single-cell sequencing and confirmed via pathological analyse...

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Main Authors: Cheng-ting Xie, Hui-lian Zhang, Yi Li, Qian Li, Yi-xian Wen, Jin-yi Liu, Fei Han
Format: Article
Language:English
Published: Nature Publishing Group 2025-02-01
Series:Cell Death and Disease
Online Access:https://doi.org/10.1038/s41419-025-07442-1
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author Cheng-ting Xie
Hui-lian Zhang
Yi Li
Qian Li
Yi-xian Wen
Jin-yi Liu
Fei Han
author_facet Cheng-ting Xie
Hui-lian Zhang
Yi Li
Qian Li
Yi-xian Wen
Jin-yi Liu
Fei Han
author_sort Cheng-ting Xie
collection DOAJ
description Abstract Sox30 has recently been demonstrated to be a key regulator of spermatogenesis. However, the precise roles of Sox30 in the testis remain largely unclear. Here, the specific functions of Sox30 in testicular cells were determined by single-cell sequencing and confirmed via pathological analyses. Sox30 loss appears to damage all testicular cells to different extents. Sox30 chiefly drives the differentiation of primary spermatocytes. Sox30 deficiency causes spermatocyte arrest at the early phase of meiosis I, with nearly no normally developing second spermatocytes and three new spermatocyte -subclusters emerging. In addition, Sox30 seems to play important roles in the mature phenotypes of Sertoli and Leydig cells, and the proliferation and differentiation of spermatogonia. The developmental trajectory of germ cells begins with spermatogonia and splits into two different spermatocyte branches, with Sox30-null spermatocytes and wild-type spermatocytes placed at divergent ends. An opposite developmental trajectory of spermatocyte subclusters is observed, followed by incomplete development of spermatid subclusters in Sox30-null mice. Sox30 deficiency clearly alters the intercellular cross-talk of major testicular cells and dysregulates the transcription factor networks primarily involved in cell proliferation and differentiation. Mechanistically, Sox30 appears to have similar terminal functions that are involved mainly in spermatogenic development and differentiation among major testicular cells, and Sox30 performs these similar crucial roles through preferential regulation of different signalling pathways. Our study describes the exact functions of Sox30 in testicular cell development and differentiation and highlights the primary roles of Sox30 in the early meiotic phase of germ cells.
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spelling doaj-art-e69f33da028047f78c8e75607bee38e52025-08-20T02:15:11ZengNature Publishing GroupCell Death and Disease2041-48892025-02-0116111910.1038/s41419-025-07442-1Single-cell RNA-seq and pathological phenotype reveal the functional atlas and precise roles of Sox30 in testicular cell development and differentiationCheng-ting Xie0Hui-lian Zhang1Yi Li2Qian Li3Yi-xian Wen4Jin-yi Liu5Fei Han6School of Public Health, Chongqing Medical UniversitySchool of Public Health, Chongqing Medical UniversitySchool of Public Health, Chongqing Medical UniversitySchool of Public Health, Chongqing Medical UniversitySchool of Public Health, Chongqing Medical UniversityInstitute of Toxicology, College of Preventive Medicine, Army Medical UniversitySchool of Public Health, Chongqing Medical UniversityAbstract Sox30 has recently been demonstrated to be a key regulator of spermatogenesis. However, the precise roles of Sox30 in the testis remain largely unclear. Here, the specific functions of Sox30 in testicular cells were determined by single-cell sequencing and confirmed via pathological analyses. Sox30 loss appears to damage all testicular cells to different extents. Sox30 chiefly drives the differentiation of primary spermatocytes. Sox30 deficiency causes spermatocyte arrest at the early phase of meiosis I, with nearly no normally developing second spermatocytes and three new spermatocyte -subclusters emerging. In addition, Sox30 seems to play important roles in the mature phenotypes of Sertoli and Leydig cells, and the proliferation and differentiation of spermatogonia. The developmental trajectory of germ cells begins with spermatogonia and splits into two different spermatocyte branches, with Sox30-null spermatocytes and wild-type spermatocytes placed at divergent ends. An opposite developmental trajectory of spermatocyte subclusters is observed, followed by incomplete development of spermatid subclusters in Sox30-null mice. Sox30 deficiency clearly alters the intercellular cross-talk of major testicular cells and dysregulates the transcription factor networks primarily involved in cell proliferation and differentiation. Mechanistically, Sox30 appears to have similar terminal functions that are involved mainly in spermatogenic development and differentiation among major testicular cells, and Sox30 performs these similar crucial roles through preferential regulation of different signalling pathways. Our study describes the exact functions of Sox30 in testicular cell development and differentiation and highlights the primary roles of Sox30 in the early meiotic phase of germ cells.https://doi.org/10.1038/s41419-025-07442-1
spellingShingle Cheng-ting Xie
Hui-lian Zhang
Yi Li
Qian Li
Yi-xian Wen
Jin-yi Liu
Fei Han
Single-cell RNA-seq and pathological phenotype reveal the functional atlas and precise roles of Sox30 in testicular cell development and differentiation
Cell Death and Disease
title Single-cell RNA-seq and pathological phenotype reveal the functional atlas and precise roles of Sox30 in testicular cell development and differentiation
title_full Single-cell RNA-seq and pathological phenotype reveal the functional atlas and precise roles of Sox30 in testicular cell development and differentiation
title_fullStr Single-cell RNA-seq and pathological phenotype reveal the functional atlas and precise roles of Sox30 in testicular cell development and differentiation
title_full_unstemmed Single-cell RNA-seq and pathological phenotype reveal the functional atlas and precise roles of Sox30 in testicular cell development and differentiation
title_short Single-cell RNA-seq and pathological phenotype reveal the functional atlas and precise roles of Sox30 in testicular cell development and differentiation
title_sort single cell rna seq and pathological phenotype reveal the functional atlas and precise roles of sox30 in testicular cell development and differentiation
url https://doi.org/10.1038/s41419-025-07442-1
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