Ask about this productRelated genes to: IFT122 Blocking Peptide
- Gene:
- IFT122 NIH gene
- Name:
- intraflagellar transport 122
- Previous symbol:
- WDR10
- Synonyms:
- WDR140, WDR10p, SPG
- Chromosome:
- 3q21.3-q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-04-05
- Date modifiied:
- 2018-02-13
Related products to: IFT122 Blocking Peptide
Related articles to: IFT122 Blocking Peptide
- Multiple morphological abnormalities of the sperm flagella (MMAF) is a major cause of male infertility, but identified gene mutations can only explain about 60% of clinical cases. Here, dynein axonemal intermediate chain 4 (DNAI4) is identified as an essential regulator of sperm flagellum morphogenesis. RT-PCR and western blot analyses indicate that expression of DNAI4 is enriched in murine testes. Dnai4 deletion in mice causes male-specific infertility due to oligoasthenoteratospermia with MMAF. Electron microscopy analyses revealed that DNAI4 deficiency resulted in an abnormal ultrastructure of sperm flagella, including disorganized mitochondrial sheaths, outer dense fibers, "9+2" axonemes, and missing inner dynein arms (IDA) and outer dynein arms. IDA component DNAH10 was remarkably reduced in testes and sperm tails of Dnai4 knockout mice. Immunoprecipitation demonstrated the interaction between DNAI4 and intraflagellar transport (IFT) 144 within the testes. Other IFT-A members including IFT140, IFT122 and IFT121 were down-regulated in sperm tails following Dnai4 deletion. Taken together, these findings establish DNAI4 as an essential regulator of sperm flagellum assembly and mammalian spermiogenesis, operating through the regulation of IDA assembly and retrograde IFT. - Source: PubMed
Publication date: 2026/05/05
Yang FanMeng ShiqiLu WentingSu JiayiLi GuanghuaGe TingtingZhao YichunWhelan Eoin CYuan LuYang YueqiZhang FengmingCheng XuShi AnqiZhao YaFang XiaoNiu ChangminZheng Ying - Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including components of the WNT signaling pathway have been proposed. This study aimed to identify additional genes contributing to the pathogenesis of BEEC and to verify previously suggested candidate genes. We performed trio-based whole genome sequencing on 19 individuals with BEEC and their unaffected parents; of those, five carried earlier reported microdeletions. The genome data was also filtered in silico for variants in 204 candidate genes selected from databases, publications, and in-house findings. Variants were prioritized based on allele frequency and predicted functional impact. In 8 of the 19 trios, our findings highlight members of the ADGR-gene family as novel candidate genes for BEEC, alongside other implicated genes such as TRANK1, CSNK1E, IFT122, SDK1, SDK2, and KIF19 and propose two more CNVs as risk factors for BEEC; on chromosome regions 1p36 and 16p11.2. This study identifies novel candidate genes for BEEC within the ADGR gene family. The results also further implicate a complex molecular background of BEEC. - Source: PubMed
Publication date: 2026/02/10
Nordenskjöld AgnetaAlm SamaraEisfeldt JesperCao JiaAnderberg MagnusBarker GillianMatsson HansHolmdahl GundelaLindstrand AnnaLagerstedt-Robinson Kristina - Spermiogenesis requires extensive molecular and structural remodeling to produce motile sperm. Mutations in the testis-specific RNA methyltransferase NSUN7 are associated with defective fibrous sheath, impaired sperm motility, and male infertility. However, the underlying molecular mechanisms remain poorly understood. Here, we performed proteomic profiling of sorted, elongated, and round spermatids, as well as mature spermatozoa from Nsun7 knockout mice. We showed that NSUN7 is present at all stages of spermiogenesis and is most abundant in round spermatids, which corresponds to the formation of the flagellum and fibrous sheath assembly. Loss of NSUN7 altered the abundance of proteins essential for dynein arm assembly (PIH1D3, CCDC103, CCDC40), intraflagellar transport (IFT122), and fibrous sheath organization (AKAP3, AKAP4, ROPN1L). We also showed that the previously detected impaired retention of cytoplasm in elongated spermatids may be caused by plectin accumulation. Interestingly, no statistically significant changes were found in mature sperm proteomes upon Nsun7 inactivation. Our findings support a model in which NSUN7 primarily stabilizes protein complexes and coordinates flagellar assembly. This indicates that NSUN7 is a critical regulator of spermiogenesis, and its malfunction is a contributing factor to male infertility. - Source: PubMed
Publication date: 2025/12/25
Buev Vitaly SGuseva Ekaterina ARubtsova Maria PPriymak Anastasia VNovikova Svetlana EAverina Olga APermyakov Oleg AGrigoryeva Olga OManskikh Vasily NZgoda Victor GDontsova Olga ASergiev Petr V - To investigate the clinical characteristics of infantile cholestasis caused by IFT122 gene variants and the molecular mechanism underlying its impact on primary cilia. The clinical data of an infant with cholestasis from the Children's Hospital of Fudan University in September 2022 were retrospectively analyzed. The whole-exome sequencing was performed to identify candidate variants, which were validated by Sanger sequencing in the family. Immortalized cell lines were generated using lentiviral infection, followed by immunofluorescence staining to assess the impact of the variants on primary cilia. Intergroup comparisons were performed using the independent sample -test and Mann-Whitney test. The proband was a 4-month-old male infant presenting with jaundice, distinctive facial features, and sagittal craniosynostosis. Blood biochemistry indicated elevated direct bilirubin, total bile acids, and transaminases, with markedly increased γ-glutamyltransferase (GGT). Liver pathology demonstrated giant cell hepatitis with cholestasis and bile duct dysplasia. Genetic analysis identified compound heterozygous variants in IFT122 (NM_052989.3) gene c.88G>C (p.Ala30Pro) and c.240G>C (p.Trp80Cys), which co-segregated with the disease in the family. Immunofluorescence analysis demonstrated that the IFT122 gene compound heterozygous missense variants not only significantly reduced the proportion of cilia-positive cells but also led to aberrant ciliary localization of ADP-ribosylation factor-like protein 13B (ARL13B).In addition, ciliary deposition with phosphatidylinositol polyphosphate 5-phosphatase type Ⅳ (INPP5E) was reduced. All differences were statistically significant (all <0.05). The compound heterozygous missense variants in IFT122 gene not only impair ciliogenesis but also disrupt the ciliary localization of ARL13B and INPP5E, ultimately resulting in high-GGT infantile cholestasis. - Source: PubMed
Li J QLi YHe R DFeng J YWang J S - Cilia are thin extensions on the cells of eukaryotic organisms. They are formed by a special protein transport mechanism - the intraflagellar transporter (IFT). The IFT consists of two proteins: complex A and complex B. Mutations in the genes of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) lead to the development of skeletal ciliopathies. These include Sensenbrenner, Jeune, and short-rib polydactyly syndrome [1,2]. We report two cases of different ciliopathies in a non-related family; both parents are heterozygous carriers of a pathogenic mutation in the IFT122 gene. - Source: PubMed
Publication date: 2025/08/01
Kirov Georgi StefanovSchmidt FraukeAlsat-Krenz Senem ElenaDede Flutura