Ask about this productRelated genes to: SPATA2L antibody
- Gene:
- SPATA2L NIH gene
- Name:
- spermatogenesis associated 2 like
- Previous symbol:
- C16orf76
- Synonyms:
- MGC26885, tamo
- Chromosome:
- 16q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 2006-07-04
- Date modifiied:
- 2016-01-14
Related products to: SPATA2L antibody
Related articles to: SPATA2L antibody
- Thyroid hormones are central to regulating metabolism, growth, and development, yet their complex interactions with socioeconomic, metabolic, and genetic factors remain understudied in diverse populations. We compared thyroid profiles - free triiodothyronine (FT3), free thyroxine (FT4), and thyroid-stimulating hormone (TSH) in Indian adolescents with anthropometric traits, metabolic markers, and socioeconomic status (SES). We observed that adolescents from higher SES backgrounds exhibited greater metabolic dysregulation, altered thyroid profiles, and abnormalities in lipid and adipokine levels. Subclinical (16.1%) and clinical hypothyroidism (1.1%) were found to be prevalent in this population but were not associated with obesity. Instead, they showed links with dyslipidemia and altered adipokine profiles. To investigate the genetic basis of thyroid traits, we conducted an exome-wide association study (ExWAS, N = 4324), and a two-staged genome-wide association study (GWAS, N = 4854). The ExWAS revealed two novel loci for TSH (GYS2 and CEP162) and fifteen novel loci for FT4, including ZNF467, P3H3, CRLF3, SPATA2L, MEFV, THNSL2, COL27A1, COL28A1, IGSF3, ZNF732, MOG, GABBR1, HPF1, LOC440563, and SPEG. The GWAS identified novel associations at near-genome-wide significance for TSH (ACTL7B) and FT4 (LINC00648, YTHDC1, and C2CD4B). We also replicated established associations in FOXE1 and IGFBP5. Our findings suggest that SES, metabolic health, and genetics jointly influence thyroid function in Indian adolescents. The identification of population-specific loci emphasizes the importance of ancestry-informed genetic studies and supports the development of precision interventions to enhance pediatric thyroid health. - Source: PubMed
Publication date: 2025/11/17
Nair Janaki MBandesh KhushdeepK Giri AnilMarwaha Raman KBasu AnalabhaTandon NikhilChakraborty ShraddhaBharadwaj Dwaipayan - Adipocytokines, including leptin, adiponectin, and resistin, are key mediators linking adiposity, insulin resistance, and inflammation. We present the first genome-wide association study (GWAS; N = 5258) and exome-wide association study (ExWAS; N = 4578) on leptin, adiponectin, and resistin in South Asian population. We identified novel associations in genes ZNF467, and LEPREL2 for leptin; ZNF467, LEPREL2, CRLF3, ZNF732, SOX30, XIRP1, ATP8B3, SPATA2L, TMCO4, TLN2, ABCA12, and SHB for adiponectin; and D2HGDH for resistin. Additionally, we confirmed known associations of FTO, MC4R, and HOXB3 with leptin and ADIPOQ with adiponectin. Notably, ADIPOQ variants were consistently significant across GWAS, ExWAS, and gene-based analyses, reinforcing their central role in regulating adiponectin levels. Most of these novel associations identified were population-specific, highlighting the importance of studying diverse populations to uncover unique genetic signals. After adjusting for BMI, the associations with adiponectin and resistin remained significant, whereas most associations for leptin weakened in both effect size and significance. Functional annotation revealed that the identified variants were enriched for expression in adipose tissue, the brain (cerebellar hemisphere and cerebral cortex), and the pituitary gland. These variants act as eQTLs and splice-QTLs in adipose, brain, and pancreas, suggesting cross-tissue regulatory mechanisms. ExWAS further implicated rare variant burden in genes such as LONP1, ZNF335, and TTC16 for adiponectin and resistin. These findings enhance our understanding of adipocytokine biology, emphasises the need for population-specific genetic research, and lays foundation for future functional studies. - Source: PubMed
Publication date: 2025/04/05
Nair Janaki MChauhan GaneshPrasad GauriChakraborty ShraddhaBandesh KhushdeepGiri Anil KMarwaha Raman KBasu AnalabhaTandon NikhilBharadwaj Dwaipayan - Understanding the genomic features of livestock is essential for successful breeding programs and conservation. This information is scarce for local goat breeds in Egypt. In the current study, genomic regions with selection signatures were identified as well as runs of homozygosity (ROH), genomic inbreeding coefficients (F) and fixation index (F) were detected in Egyptian Nubian, Damascus, Barki and Boer goat breeds. A total of 46,268 SNP markers and 337 animals were available for the genomic analyses. On average, 145.44, 42.02, 87.90 and 126.95 ROHs were detected per individual in the autosomal genome of the respective breeds. The mean accumulative ROH lengths ranged from 46.5 Mb in Damascus to 360 Mb in Egyptian Nubian. The short ROH segments (< 2 Mb) were most frequent in all breeds, while the longest ROH segments (> 16 Mb) were exclusively found in the Egyptian Nubian. The highest average F was observed in Egyptian Nubian (~ 0.12) followed by Boer (~ 0.11), while the lowest F was found in Damascus (~ 0.05) and Barki breed (~ 0.03). The estimated mean F was 0.14 (Egyptian Nubian and Boer), 0.077 (Egyptian Nubian and Barki), 0.075 (Egyptian Nubian and Damascus), 0.071 (Barki and Boer), 0.064 (Damascus and Boer), and 0.015 (Damascus and Barki), for each pair of breeds. Interestingly, multiple SNPs that accounted for high F values were observed on chromosome 6 in regions harboring ALPK1 and KCNIP4. Genomic regions overlapping both F and ROH harbor genes related to immunity (IL4R, PHF23, GABARAP, GPS2, and CD68), reproduction (SPATA2L, TNFSF12, TMEM95, and RNF17), embryonic development (TCF25 and SOX15) and adaptation (MC1R, KDR, and KIT), suggesting potential genetic adaptations to local environmental conditions. Our results contribute to the understanding of the genetic architecture of different goat breeds and may provide valuable information for effective preservation and breeding programs of local goat breeds in Egypt. - Source: PubMed
Publication date: 2023/09/26
Sallam Ahmed MReyer HenryWimmers KlausBertolini FrancescaAboul-Naga AdelBraz Camila URabee Alaa Emara - Toll-like receptor 4 (TLR4) is a key pattern recognition receptor that can be activated by bacterial lipopolysaccharide to elicit inflammatory response. Proper activation of TLR4 is critical for the host defense against microbial infections. Since overactivation of TLR4 causes deleterious effects and inflammatory diseases, its activation needs to be tightly controlled by negative regulatory mechanisms, among which the most pivotal could be deubiquitination of key signaling molecules mediated by deubiquitinating enzymes (DUBs). CYLD is a member of the USP family of DUBs that acts as a critical negative regulator of TLR4-depedent inflammatory responses by deconjugating polyubiquitin chains from signaling molecules, such as TRAF6 and TAK1. Dysregulation of CYLD is implicated in inflammatory diseases. However, how the function of CYLD is regulated during inflammatory response remains largely unclear. Recently, we and other authors have shown that Spata2 functions as an important CYLD partner to regulate enzymatic activity of CYLD and substrate binding by this protein. Here, we show that a Spata2-like protein, Spata2L, can also form a complex with CYLD to inhibit the TLR4-dependent inflammatory response. We found that Spata2L constitutively interacts with CYLD and that the deficiency of Spata2L enhances the LPS-induced NF-κB activation and proinflammatory cytokine gene expression. Mechanistically, Spata2L potentiated CYLD-mediated deubiquitination of TRAF6 and TAK1 likely by promoting CYLD enzymatic activity. These findings identify Spata2L as a novel CYLD regulator, provide new insights into regulatory mechanisms underlying CYLD role in TLR4 signaling, and suggest potential targets for modulating TLR4-induced inflammation. - Source: PubMed
Zhang ZhenzhenZhang ShuangyanJiang XiaoliWu DandanDu YaningYang Xiao-Dong - Maternal dietary conditions play a major role in fetal growth and brain development. The primary aim of this study was to determine the effects of 5% of energy substitution by vegetables in a maternal dietary fat on placental and fetal weight and on fetal brain gene expression. Two-month-old female C57BL/6 mice were fed 16% (normal-fat, NF), 45% fat (HF), or HF substituted with vegetables (5% energy, HF+VS) diets for 12 weeks. Dams were then bred with NF diet-fed male mice. Placenta and fetal weights were measured at gestational age 19 (D19). RNA was isolated from fetal whole brains and sequenced using Illumina HiSeq. HF+VS diet prevented maternal HF diet-induced decreases in placental weight at D19. Feeding of a maternal HF diet was associated with 79 differentially expressed genes (DEGs), while maternal vegetable substitution was associated with 131 DEGs. The vegetable substitution diet decreased Apold1 (P=.0319), Spata2l (P=.0404), and Celsr1 (P<.03) expression compared to HF diet. Enrichment analysis of HF vs. HF+VS DEGs identified that synapse organization and regulation of embryonic development were significantly represented. KEGG enrichment analysis identified a significant representation of DEGs in the ubiquitin mediated proteolysis pathway in HF vs. HF+VS, and chemokine signaling pathway in NF vs. HF. These findings suggest that at D19, in a rodent model, a maternal HF diet alters placental and fetal growth, and that vegetable supplementation renders a protective effect against these changes. - Source: PubMed
Publication date: 2022/06/10
Claycombe-Larson Kate JBundy Amy NKuntz TerryHur JungukYeater Kathleen MCasperson ShanonBrunelle Dale CRoemmich James N