Analysis of SERPING1 expression on hereditary angioedema patients: Quantitative analysis of full-length and exon 3 splicing variants

2012 ◽  
Vol 141 (2) ◽  
pp. 158-164 ◽  
Author(s):  
Rocío Mena de la Cruz ◽  
Alberto López-Lera ◽  
Margarita López-Trascasa
2008 ◽  
Vol 45 (16) ◽  
pp. 4133
Author(s):  
Rocio Mena de la Cruz ◽  
Alberto Lopez-Lera ◽  
Sofia Garrido-Herrero ◽  
Gumersindo Fontan ◽  
Margarita Lopez-Trascasa

2020 ◽  
Author(s):  
Kevin Lebrigand ◽  
Joseph Bergenstråhle ◽  
Kim Thrane ◽  
Annelie Mollbrink ◽  
Pascal Barbry ◽  
...  

ABSTRACTIn situ capturing technologies add tissue context to gene expression data, with the potential of providing a greater understanding of complex biological systems. However, splicing variants and full-length sequence heterogeneity cannot be characterized with current methods. Here, we introduce Spatial Isoform Transcriptomics (SiT), an explorative method for characterizing spatial isoform and sequence heterogeneity in tissue sections, and show how it can be used to profile isoform expression and sequence heterogeneity in a tissue context


2017 ◽  
Vol 49 (10) ◽  
pp. 962-965
Author(s):  
Jin Wu ◽  
Guanting Lu ◽  
Jianwei Wu ◽  
Hua Yang ◽  
Zhicao Yu ◽  
...  

Genetics ◽  
2019 ◽  
Vol 214 (2) ◽  
pp. 447-465 ◽  
Author(s):  
Robert G. Wisotzkey ◽  
Stuart J. Newfeld

Evolutionary relationships between prodomains in the TGF-β family have gone unanalyzed due to a perceived lack of conservation. We developed a novel approach, identified these relationships, and suggest hypotheses for new regulatory mechanisms in TGF-β signaling. First, a quantitative analysis placed each family member from flies, mice, and nematodes into the Activin, BMP, or TGF-β subfamily. Second, we defined the prodomain and ligand via the consensus cleavage site. Third, we generated alignments and trees from the prodomain, ligand, and full-length sequences independently for each subfamily. Prodomain alignments revealed that six structural features of 17 are well conserved: three in the straitjacket and three in the arm. Alignments also revealed unexpected cysteine conservation in the “LTBP-Association region” upstream of the straitjacket and in β8 of the bowtie in 14 proteins from all three subfamilies. In prodomain trees, eight clusters across all three subfamilies were present that were not seen in the ligand or full-length trees, suggesting prodomain-mediated cross-subfamily heterodimerization. Consistency between cysteine conservation and prodomain clustering provides support for heterodimerization predictions. Overall, our analysis suggests that cross-subfamily interactions are more common than currently appreciated and our predictions generate numerous testable hypotheses about TGF-β function and evolution.


2015 ◽  
Vol 58 (4) ◽  
Author(s):  
Bao Yu Zhang ◽  
Zhao Jun Hou ◽  
Guang Ce Wang ◽  
Guang Peng

AbstractMalate dehydrogenase (MDH) is an enzyme that catalyzes the interconversion of malate and oxaloacetate substrates and is widely distributed from prokaryotes to eukaryotes. It plays crucial roles in many important metabolic pathways and includes different isoforms based on coenzyme specificity and cellular localization. To study MDH in rhodophytes, we obtained a full-length cDNA clone (here designated


2007 ◽  
Vol 388 (4) ◽  
pp. 419-426 ◽  
Author(s):  
Josep Roma ◽  
Ester Saus ◽  
Marc Cuadros ◽  
Jaume Reventós ◽  
Josep Sánchez de Toledo ◽  
...  

Abstract Alternative splicing of human tyrosine hydroxylase (hTH) transcripts appears to occur mainly in the N-terminal domain, giving rise to at least eight different isoforms. We recently reported the existence of hTH transcript variants resulting from splicing of exons 8 and 9, within a region previously thought to be constant. The mRNA distribution of these novel hTH isoforms in neuroblastic tumours and in foetal adrenal glands was analysed by conventional and real-time RT-PCR. The presence of the target protein was determined by Western blotting, immunoprecipitation and protein analysis. Transcripts lacking exons 8 and 9 were widely distributed in the tissues analysed. Characterisation of full-length mRNA revealed that splicing of exons 8 and 9 was always associated with splicing of exons 2 (hTH-Δ2,8,9) or 1b and 2 (hTH-Δ1b,2,8,9). In addition, one variant detected on Western blots in several tumours fits the predicted size (58 kDa) of the isoforms lacking exons 8 and 9. In conclusion, the two novel isoforms reported here (hTH-Δ2,8,9 and hTH-Δ1b,2,8,9) represent the first full-length isoforms with alternative splicing in the hTH C-terminal domain. These results demonstrate for the first time the existence of hTH isoforms Δ2,8,9 and Δ1b,2,8,9. Their general distribution in neuroblastoma and adrenal glands and translation into protein suggest a significant functional role for these novel hTH isoforms, which merit further study.


2002 ◽  
Vol 364 (1) ◽  
pp. 137-144 ◽  
Author(s):  
Baisong MEI ◽  
Ling ZHAO ◽  
Li CHEN ◽  
Hei Sook SUL

We originally identified preadipocyte factor-1 (Pref-1) as an inhibitor of adipogenesis by the fact that constitutive expression of full-length Pref-1A inhibits differentiation of 3T3-L1 cells into adipocytes. Subsequently, we found that the membrane form of Pref-1 is proteolytically processed at two sites in the extracellular domain, resulting in the larger (50kDa) and smaller (25kDa) soluble forms. A specific form(s) of Pref-1, which is active in inhibiting adipocyte differentiation, has not been elucidated. Here, various artificial constructs and alternative-splicing variants of Pref-1 were stably transfected into 3T3-L1 cells, or conditioned media from COS cells transfected with the various forms were added into differentiating 3T3-L1 cells. Judging by Oil Red O staining for lipid accumulation and expression of adipocyte markers, we determined that, unlike the full-length Pref-1A and the constructed large soluble form, the artificial membrane form of Pref-1 lacking the processing site proximal to the membrane was not effective in inhibiting adipogenesis. Furthermore, conditioned media from COS cells transfected with the construct containing only the first three epidermal growth factor repeats, corresponding to the small soluble form, was not effective in inhibiting adipocyte differentiation. Of the four alternative-splicing products, Pref-1A and Pref-1B, which generate both large and small soluble forms, inhibited adipogenesis, whereas Pref-1C and Pref-1D, which lack the processing site proximal to the membrane and therefore generate only the smaller soluble form, did not show any effect. We conclude that only the large soluble form, and not the transmembrane or the small soluble form, of Pref-1 is biologically active and that alternative splicing therefore determines Pref-1 function in adipocyte differentiation.


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