POGLUT

Last update 08 May 2025

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100 Clinical Results associated with POGLUT

100 Translational Medicine associated with POGLUT

0 Patents (Medical) associated with POGLUT

144

Literatures (Medical) associated with POGLUT

01 May 2025·Theoretical and Applied Genetics

Mapping of identity by descent reveals genes shaping morphology and biological traits in the cultivated lettuce varieties during the long-term crossbreeding

Article

Author: Cui, Bo ; Guo, Zhongxu ; Dong, Xinyu ; Wang, Yujue ; Jensen, Just ; Xie, Xueying ; Lv, Wenjun ; Zhang, Qianqian

The domestication of lettuce (Lactuca sativa L.) has resulted in its unique leaf morphology, making it one of the most widely consumed vegetable crops worldwide. The development of sequencing technology provides the opportunity to thoroughly investigate how the genomic variants contribute to the distinct morphology and biological traits of various major cultivated lettuce varieties such as Butterhead, Crisphead and Cos, which remains largely unknown. First, we present the phylogeny of the cultivated lettuce varieties and population structure of the sequenced represented cultivated lettuce varieties. We then utilized the method of relative Identity by descent (rIBD) to map the genomic regions and genes that show evidence of shared ancestry and selection in the pair-wised comparisons of these varieties. The average rIBD scores of 0.063, 0.093 and 0.187 were observed between Butterhead and Cos, Butterhead and Crisphead, Crisphead and Cos, respectively, and we further employed the Fixation index and integrated haplotype score method to validate whether these genomic regions are also under selection. We have identified candidate significant genes such as WOX2, GT5, RZ1B, ATPK2 and HIRA which play key roles in seed development, anthocyanins 3-O-glucosyltransferase activity and the accumulation of anthocyanin pigment, tolerance to cold stress, plant disease resistance and tolerance to heavy metal cadmium and leaf development during long-term cross-breeding and selection. Our relative identity by descent mapping reveals critical functional genes under selection shaping morphology and biological traits in the cultivated lettuce varieties throughout long-term crossbreeding.

01 Mar 2025·Journal of Biological Chemistry

Marfan syndrome variation of the POGLUT2 and POGLUT3 consensus sequence can produce aberrant fibrillin-1 O-glucosylation

Article

Author: Kegley, Nicholas R ; Haltiwanger, Robert S ; Ito, Atsuko ; Williamson, Daniel B ; McArdle, Christina C

Fibrillin-1 (FBN1) is an essential component of the extracellular matrix, forming microfibril bundles that are important for proper development of elastic tissues found in the aorta and lung, as well as non-elastic tissue found in the eyes and skeleton. Many missense mutations in the FBN1 gene are associated with Marfan syndrome (MFS), a common developmental disorder. FBN1 contains 47 Epidermal Growth Factor-Like (EGF) repeats, which are protein domains characterized by six cysteines (C) and three disulfide bonds. Over half of these EGF repeats are modified with an O-glucose monosaccharide added by Protein O-glucosyltransferase 2 and/or 3 (POGLUT2/3). Previous studies showed that O-glucose modifies the serine within the putative consensus sequence between C three and four: C³-x-N-T-x-G-S-F/Y-x-C⁴. These residues are common among modified EGFs, but it is unknown if they are required for O-glucosylation. To address this, we used a glycoproteomic approach by analyzing O-glucosylation levels of individual EGF repeats from overexpressed N-terminal FBN1 variants in HEK293T cells. Surprisingly, only the serine (S) was required for O-glucosylation, leading to the revised consensus sequence, C³-x-x-x-x-x-S-x-x-C⁴. Using this open consensus in database searches, the possible number of POGLUT2/3 substrates in humans has doubled. While some variants displayed reduced O-glucose monosaccharide modification, other variants, including MFS variants, displayed elongation of the O-glucose monosaccharide by additional glycosyltransferases. MFS variants reduction or elongation of O-glucose warrants further investigation on their influence on FBN1 function, which could play a role in the molecular mechanism of the disease.

01 Feb 2025·Molecular Oncology

Minimally invasive determination of pancreatic ductal adenocarcinoma (PDAC) subtype by means of circulating cell‐free RNA

Article

Author: Muckenhuber, Alexander ; Hoheisel, Jörg D. ; Ramotar, Stephanie ; Trajkovic‐Arsic, Marija ; Gallinger, Steven ; Siveke, Jens T. ; O'Kane, Grainne ; Dodd, Anna ; von Neuhoff, Nils ; Reissig, Timm M. ; Zaun, Gregor ; Horn, Peter A. ; Kunzmann, Volker ; Schürmann, Hendrik ; Cheung, Phyllis ; Lueong, Smiths S. ; Knox, Jennifer J. ; Metzenmacher, Martin

Pancreatic ductal adenocarcinoma (PDAC) comprises two clinically relevant molecular subtypes that are currently determined using tissue biopsies, which are spatially biased and highly invasive. We used whole transcriptome sequencing of 10 plasma samples with tumor‐informed subtypes, complemented by proteomic analysis for minimally invasive identification of PDAC subtype markers. Data were validated in independent large cohorts and correlated with treatment response and patient outcome. Differential transcript abundance analyses revealed 32 subtype‐specific, protein‐coding cell‐free RNA (cfRNA) transcripts. The subtype specificity of these transcripts was validated in two independent tissue cohorts comprising 195 and 250 cases, respectively. Three disease‐relevant cfRNA‐defined subtype markers (DEGS1, KDELC1, and RPL23AP7) that consistently associated with basal‐like tumors across all cohorts were identified. In both tumor and liquid biopsies, the overexpression of these markers correlated with poor survival. Moreover, elevated levels of the identified markers were linked to a poor response to systemic therapy and early relapse in resected patients. Our data indicate clinical applicability of cfRNA markers in determining tumor subtypes and monitoring disease recurrence.

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POGLUT

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