New insights into the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesis

Stokes, Matthew J.; Murakami, Yoshiko; Maeda, Yusuke; Kinoshita, Taroh; Morita, Yoshiko

doi:10.1042/bj20140541

Cited by 8 publications

(3 citation statements)

References 23 publications

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“…Another is on chromosome 17, containing the keratin genes KRT39 and KRT40 , the latter being expressed during hair follicle differentiation ( Langbein et al 2007 ). On chromosome 4, a signal is detected on the PIGG gene, which is involved in the glycosylphosphatidylinositol anchor biosynthesis pathway, allowing the attachment of cell surface proteins to the cell membrane ( Stokes et al 2014 ).…”

Section: Resultsmentioning

confidence: 99%

Extensive Admixture and Selective Pressure Across the Sahel Belt

et al. 2015

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Genome-wide studies of African populations have the potential to reveal powerful insights into the evolution of our species, as these diverse populations have been exposed to intense selective pressures imposed by infectious diseases, diet, and environmental factors. Within Africa, the Sahel Belt extensively overlaps the geographical center of several endemic infections such as malaria, trypanosomiasis, meningitis, and hemorrhagic fevers. We screened 2.5 million single nucleotide polymorphisms in 161 individuals from 13 Sahelian populations, which together with published data cover Western, Central, and Eastern Sahel, and include both nomadic and sedentary groups. We confirmed the role of this Belt as a main corridor for human migrations across the continent. Strong admixture was observed in both Central and Eastern Sahelian populations, with North Africans and Near Eastern/Arabians, respectively, but it was inexistent in Western Sahelian populations. Genome-wide local ancestry inference in admixed Sahelian populations revealed several candidate regions that were significantly enriched for non-autochthonous haplotypes, and many showed to be under positive selection. The DARC gene region in Arabs and Nubians was enriched for African ancestry, whereas the RAB3GAP1/LCT/MCM6 region in Oromo, the TAS2R gene family in Fulani, and the ALMS1/NAT8 in Turkana and Samburu were enriched for non-African ancestry. Signals of positive selection varied in terms of geographic amplitude. Some genomic regions were selected across the Belt, the most striking example being the malaria-related DARC gene. Others were Western-specific (oxytocin, calcium, and heart pathways), Eastern-specific (lipid pathways), or even population-restricted (TAS2R genes in Fulani, which may reflect sexual selection).

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Section: Resultsmentioning

confidence: 99%

Extensive Admixture and Selective Pressure Across the Sahel Belt

et al. 2015

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“…Phosphatidylinositol glycan anchor biosynthesis class F (PIGF) is a protein involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. 44 The GPI-anchor is a glycolipid containing three mannose molecules in its core backbone. It is found in many blood cells, where it functions to anchor proteins to the cell surface.…”

Section: Discussionmentioning

confidence: 99%

Proteomic analysis reveals potential therapeutic targets for childhood asthma through Mendelian randomization

Wu,

Cai,

Chen

et al. 2024

Clinical & Translational All

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BackgroundAsthma is the most common chronic disease among children and poses a significant threat to their health. This study aims to assess the relationship between various plasma proteins and childhood asthma, thereby identifying potential therapeutic targets.MethodsBased on publicly available genome‐wide association study summary statistics, we employed a two‐sample Mendelian randomization (MR) approach to elucidate the causal relationship between plasma proteins and asthma. Mediation analysis was then conducted to evaluate the indirect influence of plasma proteins on childhood asthma mediated through risk factors. Comprehensive analysis was also conducted to explore the association between plasma proteins and various phenotypes using the UK Biobank dataset.ResultsMR analysis uncovered a causal relationship between 10 plasma proteins and childhood asthma. Elevated levels of seven proteins (TLR4, UBP25, CBR1, Rac GTPase‐activating protein 1 [RGAP1], IL‐21, MICB, and PDE4D) and decreased levels of three proteins (GSTO1, LIRB4 and PIGF) were associated with an increased risk of childhood asthma. Our findings further validated the connections between reported risk factors (body mass index, mood swings, hay fever or allergic rhinitis, and eczema or dermatitis) and childhood asthma. Mediation analysis revealed the influence of proteins on childhood asthma outcomes through risk factors. Furthermore, the MR analysis identified 73 plasma proteins that exhibited causal associations with at least one risk factor for childhood asthma. Among them, RGAP1 mediates a significant proportion (25.10%) of the risk of childhood asthma through eczema or dermatitis. Finally, a phenotype‐wide association study based on these 10 proteins and 1403 diseases provided novel associations between these biomarkers and multiple phenotypes.ConclusionOur study comprehensively investigated the causal relationship between plasma proteins and childhood asthma, providing novel insights into potential therapeutic targets.

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“…Furthermore, another study demonstrates that PIGF has functions beyond a structural role since (Stokes et al 2014).…”

Section: Discussionmentioning

confidence: 99%

PIGF deficiency causes a phenotype overlapping with DOORS syndrome

et al. 2021

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DOORS syndrome is characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. In this study, we report two unrelated families with two individuals with DOORS syndrome without deafness.Exome sequencing revealed a homozygous missense variant in PIGF (NM_173074.3:c.515C>G, p.Pro172Arg) in both. We demonstrate impaired glycosylphosphatidylinositol (GPI) biosynthesis through flow cytometry analysis. We thus describe the causal role of a novel disease gene, PIGF, in DOORS syndrome and highlight the overlap between this condition and GPI deficiency disorders. For each gene implicated in DOORS syndrome and/or inherited GPI deficiencies, there is considerable clinical variability so a high index of suspicion is warranted even though not all features are noted.

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New insights into the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesis

Cited by 8 publications

References 23 publications

Extensive Admixture and Selective Pressure Across the Sahel Belt

Extensive Admixture and Selective Pressure Across the Sahel Belt

Proteomic analysis reveals potential therapeutic targets for childhood asthma through Mendelian randomization

PIGF deficiency causes a phenotype overlapping with DOORS syndrome

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