scholarly journals Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and Sin3A Associated Protein 130 (SAP130)

Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 590
Author(s):  
Paula I. Metselaar ◽  
Celine Hos ◽  
Olaf Welting ◽  
Jos A. Bosch ◽  
Aletta D. Kraneveld ◽  
...  
Keyword(s):  
Immune System ◽  
Histone Deacetylase ◽  
Mendelian Inheritance ◽  
Splicing Factor ◽  
Online Mendelian Inheritance ◽  
Lectin Receptor ◽  
Corepressor Complex ◽  
A Subunit

In 2020, three articles were published on a protein that can activate the immune system by binding to macrophage-inducible C-type lectin receptor (Mincle). In the articles, the protein was referred to as ‘SAP130, a subunit of the histone deacetylase complex.’ However, the Mincle ligand the authors aimed to investigate is splicing factor 3b subunit 3 (SF3B3). This splicing factor is unrelated to SAP130 (Sin3A associated protein 130, a subunit of the histone deacetylase-dependent Sin3A corepressor complex). The conclusions in the three articles were formulated for SF3B3, while the researchers used qPCR primers and antibodies against SAP130. We retraced the origins of the ambiguity about the two proteins and found that Online Mendelian Inheritance in Man (OMIM) added a Nature publication on SF3B3 as a reference for Sin3A associated protein 130 in 2016. Subsequently, companies such as Abcam referred to OMIM and the Nature article in their products for both SF3B3 and SAP130. In turn, the mistake by OMIM followed in the persistent and confusing use of ‘SAP130′ (spliceosome-associated protein 130) as an alternative symbol for SF3B3. With this report, we aim to eliminate the persistent confusion and separate the literature regarding the two proteins.

Genetics in Ophthalmology

2020 ◽  
pp. 44-45
Author(s):  
А.Ю. Рудник ◽  
М.А. Федяков ◽  
О.С. Глотов
Keyword(s):  
Genetic Basis ◽  
Genetic Diseases ◽  
Mendelian Inheritance ◽  
Diagnostic Screening ◽  
Online Mendelian Inheritance ◽  
Clinical Diagnostic ◽  
Omim Database

На сегодняшний день в базе данных Online Mendelian Inheritance in Man (OMIM) описано более 6613 заболеваний и фенотипов, 4241 имеют доказанную генетическую основу, не менее 45% вкючают офтальмологические проявления. В статье приведен ряд клинический примеров пациентов с офтальмологическими симптомами различных генетических заболеваний (алкаптонурия, болезнь Штаргардта, синдром микроцефалии с или без хориоретинопатии; астроцитарная гамартома) с целью демонстрации эффективного клинико-диагностического скрининга генетической патологии у пациентов. So far, the Online Mendelian Inheritance in Man (OMIM) database describes more than 6613 diseases and phenotypes, 4241 have a proven genetic basis, 45% of which are combined with ophthalmological manifestations. The article provides a number of clinical examples of patients with ophthalmological manifestations of various genetic diseases (alcaptonuria, Stadgart ‘s disease, microcephaly syndrome with or without choriretinopathy; Astrocytic gamartoma) to demonstrate effective clinical-diagnostic screening of genetic pathology in patients.

A Diagnostic Case Study of a Young Man with Russell-Silver Syndrome and Associated Comorbidities

2019 ◽  
Vol 2 (1) ◽  
pp. 12-29
Author(s):  
Boon Hock Lim ◽  
Ban Meng Lee ◽  
Benjamin Kee Kee Ern Lim ◽  
Guo Hui XIE
Keyword(s):  
Response To Intervention ◽  
Mendelian Inheritance ◽  
Diagnostic Information ◽  
Online Mendelian Inheritance ◽  
Silver Syndrome

This is a case study of a young man diagnosed with Russell-Silver Syndrome or RSS for short (Online Mendelian Inheritance in Man® Classification Number #180860) and associated comorbidities. The aim of this paper is to provide diagnostic information about the syndrome with its comorbidities so that educational therapists and other allied professionals working with such individuals will know what to look out for, especially the RSS-associated comorbidities, and in that way, they become better informed in order to know what offer in their Response to Intervention (RtI) for such individuals with RSS.

scholarly journals Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders

2021 ◽  
Vol 2021 ◽  
pp. 1-19
Author(s):  
Jasmine Y. Serpen ◽  
Stephen T. Armenti ◽  
Lev Prasov
Keyword(s):  
Immune System ◽  
Lupus Erythematosus ◽  
Genetic Disorders ◽  
Anterior Segment ◽  
Adaptive Immune System ◽  
Mendelian Inheritance ◽  
Ocular Involvement ◽  
Inherited Disorders ◽  
Molecular Features ◽  
Organ Systems

Autoimmune and autoinflammatory diseases cause morbidity in multiple organ systems including the ocular anterior segment. Genetic disorders of the innate and adaptive immune system present an avenue to study more common inflammatory disorders and host-pathogen interactions. Many of these Mendelian disorders have ophthalmic manifestations. In this review, we highlight the ophthalmic and molecular features of disorders of the innate immune system. A comprehensive literature review was performed using PubMed and the Online Mendelian Inheritance in Man databases spanning 1973–2020 with a focus on three specific categories of genetic disorders: RIG-I-like receptors and downstream signaling, inflammasomes, and RNA processing disorders. Tissue expression, clinical associations, and animal and functional studies were reviewed for each of these genes. These genes have broad roles in cellular physiology and may be implicated in more common conditions with interferon upregulation including systemic lupus erythematosus and type 1 diabetes. This review contributes to our understanding of rare inherited conditions with ocular involvement and has implications for further characterizing the effect of perturbations in integral molecular pathways.

OMIM: Online Mendelian Inheritance in Man

2006 ◽  
pp. 77-84
Author(s):  
Alan F. Scott ◽  
Joanna Amberger ◽  
Brandon Brylawski ◽  
Victor A. McKusick
Keyword(s):  
Mendelian Inheritance ◽  
Online Mendelian Inheritance

scholarly journals Transcriptional Repression by the SMRT-mSin3 Corepressor: Multiple Interactions, Multiple Mechanisms, and a Potential Role for TFIIB

1998 ◽  
Vol 18 (9) ◽  
pp. 5500-5510 ◽  
Author(s):  
Chi-Wai Wong ◽  
Martin L. Privalsky
Keyword(s):  
Histone Deacetylase ◽  
Transcriptional Repression ◽  
Hormone Receptors ◽  
Alternative Pathway ◽  
Eukaryotic Transcription ◽  
Histone Deacetylase 1 ◽  
General Transcription Factor ◽  
Corepressor Complex ◽  
Chromatin Template ◽  
Physical Interactions

ABSTRACT A variety of eukaryotic transcription factors, including the nuclear hormone receptors, Max-Mad, BCL-6, and PLZF, appear to mediate transcriptional repression through the ability to recruit a multiprotein corepressor complex to the target promoter. This corepressor complex includes the SMRT/N-CoR polypeptides, mSin3A or -B, and histone deacetylase 1 or 2. The presence of a histone-modifying activity in the corepressor complex has led to the suggestion that gene silencing is mediated by modification of the chromatin template, perhaps rendering it less accessible to the transcriptional machinery. We report here, however, that the corepressor complex actually appears to exhibit multiple mechanisms of transcriptional repression, only one of which corresponds with detectable recruitment of the histone deacetylase. We provide evidence instead of an alternative pathway of repression that may be mediated by direct physical interactions between components of the corepressor complex and the general transcription factor TFIIB.

scholarly journals Assembly of Smooth Muscle Myosin by the 38k Protein, a Homologue of a Subunit of Pre-mRNA Splicing Factor-2

2000 ◽  
Vol 148 (4) ◽  
pp. 653-664 ◽  
Author(s):  
Tsuyoshi Okagaki ◽  
Akio Nakamura ◽  
Tomohiko Suzuki ◽  
Kazuhiro Ohmi ◽  
Kazuhiro Kohama
Keyword(s):  
Smooth Muscle ◽  
Smooth Muscle Cells ◽  
Smooth Muscles ◽  
Muscle Cells ◽  
Smooth Muscle Myosin ◽  
Mrna Splicing ◽  
Splicing Factor ◽  
A Subunit ◽  
Myosin Binding ◽  
Muscle Myosin

Smooth muscle myosin in the dephosphorylated state does not form filaments in vitro. However, thick filaments, which are composed of myosin and myosin-binding protein(s), persist in smooth muscle cells, even if myosin is subjected to the phosphorylation– dephosphorylation cycle. The characterization of telokin as a myosin-assembling protein successfully explained the discrepancy. However, smooth muscle cells that are devoid of telokin have been observed. We expected to find another ubiquitous protein with a similar role, and attempted to purify it from chicken gizzard. The 38k protein bound to both phosphorylated and dephosphorylated myosin to a similar extent. The effect of the myosin-binding activity was to assemble dephosphorylated myosin into filaments, although it had no effect on the phosphorylated myosin. The 38k protein bound to myosin with both COOH-terminal 20 and NH2-terminal 28 residues of the 38k protein being essential for myosin binding. The amino acid sequence of the 38k protein was not homologous to telokin, but to human p32, which was originally found in nuclei as a subunit of pre-mRNA splicing factor-2. Western blotting showed that the protein was expressed in various smooth muscles. Immunofluorescence microscopy with cultured smooth muscle cells revealed colocalization of the 38k protein with myosin and with other cytoskeletal elements. The absence of nuclear immunostaining was discussed in relation to smooth muscle differentiation.

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