Ask about this productRelated genes to: DHX37 antibody
- Gene:
- DHX37 NIH gene
- Name:
- DEAH-box helicase 37
- Previous symbol:
- DDX37
- Synonyms:
- KIAA1517, MGC4322, MGC2695, Dhr1
- Chromosome:
- 12q24.31
- Locus Type:
- gene with protein product
- Date approved:
- 2001-11-21
- Date modifiied:
- 2017-05-26
Related products to: DHX37 antibody
Related articles to: DHX37 antibody
- The testicular microenvironment, with Sertoli cells as a key component, plays a pivotal role in spermatogenesis. DHX37, a member of the DEAH-box family of RNA helicases, has been identified as a pathogenic gene in 46, XY disorders of sex development (DSD), underscoring its potential significance in testicular development. Here, we focus on elucidating the role of Dhx37 in maintaining Sertoli-cell survival. RIP-seq and RNAi-RNA-seq reveal that Dhx37 safeguards nucleolar integrity and PI3K-AKT signaling, suppresses p53-driven apoptosis, and its loss triggers pro-apoptotic splicing. Cell-specific Dhx37 knockout mice (Dhx37) were subsequently generated to investigate the function of Dhx37 in testicular development. In the Dhx37 mice, we observed pronounced defects, including diminished testicular volume, lower testosterone levels, and marked vacuolization of the seminiferous tubules. Immunofluorescence staining revealed disruptions in both Sertoli and germ cell compartments, characterized by reduced cell proliferation and elevated apoptosis. The snRNA-seq disclosed marked changes in the expression of genes governing apoptosis and proliferation, findings that were further validated through qRT-PCR and Western blotting. In this study, we identified Dhx37 as a pivotal determinant of nucleolar architecture in murine testicular Sertoli cells. Preservation of the nucleolus safeguards supporting normal testicular morphogenesis. Graphical Abstract Schematic illustrating the proposed mechanisms by which Dhx37 deficiency affects testicular development and spermatogenesis. In normal testes (left), Sertoli cells maintain a well-organized nucleolus with intact nucleolar structures, including Granular Component (GC), Fibrillar Center (FC), Dense Fibrillar Component (DFC). In this context, MDM2 interacts with P53, preventing the accumulation of P53 and inhibiting apoptosis, thereby supporting normal testicular architecture and spermatogenesis. However, in Dhx37 mice (right), testicular volume is reduced, and seminiferous tubules undergo atrophy due to nucleolar stress in Sertoli cells. The disruption of nucleolar structure leads to the export of FBL from the nucleolus, where it binds to MDM2. This disruption is accompanied by downregulation of key factors in the PI3K pathway (Fgf2, Lpar2, PI3KR2, PI3KR5) and upregulation of the P53 pathway, culminating in apoptosis. As a result, Dhx37 deficiency impairs Sertoli cell function, leading to a failure in supporting testicular development and spermatogenesis. Created with BioGDP.com. - Source: PubMed
Publication date: 2026/01/14
Jiang YuqingChen JialiRen YanshuangPeng WenyuanShen WanjunZhang YingyuLiu JieFu LiujunLi LipingMa YujinJiang HongweiPeng Huifang - Variations in Sex Characteristics (VSC), also referred to as intersex traits or Differences of Sex Development (DSD), encompass diverse chromosomal, gonadal, and anatomical sex traits. The full spectrum of VSC remains under-recognized, partly due to diagnostic approaches that prioritize classic VSC/DSD conditions. We developed a 103-term Focused Genitourinary VSC Glossary (FGV Glossary) using Human Phenotype Ontology (HPO) terms and screened 8359 Online Mendelian Inheritance in Man (OMIM) entries for inclusion. Associated genes were evaluated for coverage in clinical DSD panels and assessed in ClinVar for pathogenic variants linked to VSC/DSD phenotypes. We identified 539 OMIM entries (~6.4%) with at least one FGV Glossary term. These entries were enriched for genitourinary, breast, and endocrine phenotypes. Of 56 high-confidence VSC/DSD genes identified, 23 (41%) were absent from a current representative DSD gene panel. A curated ClinVar review showed that 3 of these 23 genes (DHX37, SPRY4, TBX3) had pathogenic variants clearly associated with VSC/DSD traits. Genome-wide sequencing should be prioritized in VSC/DSD diagnostics, consistent with current best practices, to improve diagnostic yield and guide comprehensive, multidisciplinary clinical care. - Source: PubMed
Publication date: 2025/12/29
Ragno LeahPyle Tucker Louise C - DEAH-Box helicase 37 () gene, encoding an RNA-helicase, is essential for ribosome biogenesis. Pathogenic variants in the gene result in a spectrum of ribosomopathies ranging from neurodevelopmental disorders with possible brain, vertebral, and/or cardiac anomalies (NEDBAVC syndrome, OMIM #618731) as well as disorders of sex development. Here, we describe a young boy with -related neurodevelopmental disorder with clinical and imaging findings masquerading as cerebral palsy. A 7.5-year-old boy presented with global developmental delay and generalized chorea of 6 months duration. He was born at 37 weeks gestation after an uneventful pregnancy with a birth weight of 2668 g. He had primary microcephaly and intractable epilepsy from infancy. Examination revealed microcephaly, spastic quadriparesis, generalized choreoathetosis and dystonia. MRI of the brain revealed T2-weighted hyperintensity in bilateral corticospinal tracts, posterior limb of the internal capsule (PLIC), corona radiata, external capsule, periventricular and deep white matter, as well as subcortical cysts. Diffusion-weighted images showed high signal in bilateral corticospinal tract and PLIC. As there were red flags pointing away from cerebral palsy such as primary microcephaly, refractory seizures, late-onset movement disorder, and persistent high signal on diffusion-weighted imaging, whole genome sequencing (WGS) was sent. WGS revealed a homozygous variant c.2417G>A (p.Ser806Asn) in the gene. He was managed with antiseizure medications and clonazepam. -related neurodevelopmental disorder should be included in the differential for cerebral palsy mimic as affected children have global developmental delay, primary microcephaly, seizures, and movement disorders and thus may masquerade as sequel of hypoxic ischemic encephalopathy. - Source: PubMed
Publication date: 2025/09/11
Menetrey AnikaTarnopolsky MarkYoganathan SangeethaShroff ManoharGorodetsky Carolina - Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients. We also identified a patient with a likely pathogenic variant in SOX9 and a rare likely benign variant in DHX37. This Data Report highlights the genetic and phenotypic diversity of DXH37 variants. - Source: PubMed
Publication date: 2025/09/08
Katoh-Fukui YukoSaito DaisukeNarumi HirokoHattori AtsushiIgarashi MakiUehara ErikaShima HirohitoKanno JunkoHasegawa YukihiroHorikawa ReikoNagasaki KeisukeFukami Maki - Differences of sex development (DSD) are a group of congenital conditions involving atypical chromosomal, gonadal, or anatomical sex development. , a gene involved in ribosome biogenesis, located on chromosome 12, at the 12q24.31 region, has recently emerged as a contributor to 46,XY DSD, particularly gonadal dysgenesis and testicular regression syndrome (TRS). This study presents a case series from Saudi Arabia highlighting novel and known variants in three patients with 46,XY DSD. Three Saudi patients presented with ambiguous genitalia, non-palpable or atrophic testes, and hypergonadotropic hypogonadism. Identified variants included two known (p.Arg308Gln, p.Arg674Trp) and one novel (p.Gly478Val) missense mutation. Phenotypic variability ranged from complete testicular regression to partial gonadal dysgenesis. Thus, this is the first case series of -related DSD in Saudi Arabia, expanding the mutational spectrum and reinforcing the gene's role in testicular development. Genetic testing, particularly whole-exome sequencing, is essential for accurate diagnosis and management, especially in regions with high consanguinity. - Source: PubMed
Publication date: 2025/07/22
Alabduljabbar AbeerAbid SaraFarooq DaniaAljazaeri SaraKhamag YaraAlhuthil RaghadAlfahad LatifahAlsagheir Afaf