https://m2.mtmt.hu/ hun 2026-05-26 07:47 JournalArticle 33726454 VALIDATED true Funding Agency and Grant Number: Hungarian National Research, Development and Innovation Office (NKFIH) [FK138115, PD142709, TKP2021-EGA-24]; Ministry of Innovation and Technology of Hungary from the National Research, Development and Innovation Fund [TKP2021-EGA] Funding text: This work was supported by the Hungarian National Research, Development and Innovation Office (NKFIH grant number: FK138115 and PD142709). Project no. TKP2021-EGA-24 was implemented with the support provided by the Ministry of Innovation and Technology of Hungary from the National Research, Development and Innovation Fund, and financed under the TKP2021-EGA funding scheme. 0 false 2026-05-22T20:41:36.458+0000 2026-02-03T08:57:05.343+0000 2023-03-31T10:33:10.280+0000 true 10000786 Csala Miklós /api/author/10000786 Author Csala Miklós (Biokémia) true 10000786 2026-02-03T08:57:05.162+0000 2024-12-06T18:04:03.652+0000 true 10039043 Milánkovics Róbert /api/admin/10039043 Admin Milánkovics Róbert (PTE ÁOK admin 4) true 10039043 true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Szakcikk (Folyóiratcikk) 101 true 10000059 true 1 /api/category/1 Category Tudományos true 1 Orosz, Gabriella true true /api/journal/10003252 REVIEWED INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 1661-6596 1422-0067 true false 10003252 false 10003252 true 1661-6596 1422-0067 Journal FOREIGN 24 7 6517 6517 18 2023 Alternative splicing (AS) is a major means of post-transcriptional control of gene expression, and provides a dynamic versatility of protein isoforms. Cancer-related AS disorders have diagnostic, prognostic and therapeutic values. Changes in the expression and AS of human stearoyl-CoA desaturase-5 (SCD5) are promising specific tumor markers, although the transcript variants (TVs) of the gene have not yet been confirmed. Our in silico, in vitro and in vivo study focuses on the distribution of SCD5 TVs (A and B) in human tissues, the functionality of the relevant splice sites, and their modulation by certain single-nucleotide variations (SNVs). An order of magnitude higher SCD5A expression was found compared with SCD5B. This unequal splicing is attributed to a weaker recognition of the SCD5B-specific splicing acceptor site, based on predictions confirmed by an optimized minigene assay. The pronounced dominance of SCD5A was largely modified (rs1430176385_A, rs1011850309_A) or even inverted (rs1011850309_C) by natural SNVs at the TV-specific splice sites. Our results provide long missing data on the proportion of SCD5 TVs in human tissues and reveal mutation-driven changes in SCD5 AS, potentially affecting tumor-associated reprogramming of lipid metabolism, thus having prognostic significance, which may be utilized for novel and personalized therapeutic approaches. Funding 2025995 /api/funding/2025995 (FK138115) Támogató: NKFIH false true Funding 2025996 /api/funding/2025996 (PD142709) false true Funding 2025997 /api/funding/2025997 (TKP2021-EGA-24) false true true 2023 true true true false true false GOLD 2026-05-22 true https://doi.org/10.3390/ijms24076517 4 0 4 3 1 3 3 1 1 1 1 1 1 3 1 0 4 3 4 3 0 4 4 Folyóiratcikk Journal Article 24 4 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2024 0 1 0 1 0 2025 0 3 3 3 3 D1 false 10025630 false false false 2023-04-23T11:46:42.086+0000 Molekuláris Biológiai Tanszék (SE / AOK / I / BMBI) 4 15 1 6 0 true Language 10002 /api/language/10002 Angol Angol English true 2 true PersonAuthorship 107202921 /api/authorship/107202921 Orosz, Gabriella [Orosz, Gabriella (Molekuláris biológia), szerző] Molekuláris Biológiai Tanszék (SE / AOK / I / BMBI) 1 0.167 true false false Author 10085434 /api/author/10085434 Orosz Gabriella (Molekuláris biológia) Orosz Gabriella true true Orosz Gabriella true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 107202922 /api/authorship/107202922 Szabó, Luca 2 0.16666667 false false false Szabó Luca true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 107202923 /api/authorship/107202923 Bereti, Szanna 3 0.16666667 false false false Bereti Szanna true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 107202924 /api/authorship/107202924 Zámbó, Veronika [Zámbó, Veronika (Molekuláris bioló...), szerző] Molekuláris Biológiai Tanszék (SE / AOK / I / BMBI) 4 0.167 false false false Author 10025630 /api/author/10025630 Zámbó Veronika (Molekuláris biológia, biokémia) Zámbó Veronika true 10025630 true Zámbó Veronika true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 107202925 /api/authorship/107202925 Csala, Miklós ✉ [Csala, Miklós (Biokémia), szerző] Molekuláris Biológiai Tanszék (SE / AOK / I / BMBI) 5 0.167 false false true Author 10000786 /api/author/10000786 Csala Miklós (Biokémia) Csala Miklós true 10000786 true Csala Miklós true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 107202926 /api/authorship/107202926 Kereszturi, Éva ✉ [Kereszturi, Éva (Biokémia), szerző] Molekuláris Biológiai Tanszék (SE / AOK / I / BMBI) 6 0.167 false true true Author 10020321 /api/author/10020321 Kereszturi Éva (Biokémia) Kereszturi Éva true 10020321 true Kereszturi Éva true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PublicationIdentifier 23307560 /api/publicationidentifier/23307560 DOI: 10.3390/ijms24076517 PlainSource 6 /api/publicationsource/6 DOI PublicationSourceType 10001 /api/publicationsourcetype/10001 DOI true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.3390/ijms24076517 https://doi.org/10.3390/ijms24076517 false true PublicationIdentifier 24352182 /api/publicationidentifier/24352182 WoS: 001051976300001 PlainSource 1 /api/publicationsource/1 WoS PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 001051976300001 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Molecular Basis of Unequal Alternative Splicing of Human SCD5 and Its Alteration by Natural Genetic Variations. (2023) INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 1661-6596 1422-0067 24 7<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10085434"><a href="/gui2/?type=authors&mode=browse&sel=10085434" target="_blank">Orosz Gabriella (<span class="authorship-author-name">Orosz Gabriella</span> <span class="authorAux-mtmt"> Molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Szabó Luca </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Bereti Szanna </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10025630"><a href="/gui2/?type=authors&mode=browse&sel=10025630" target="_blank">Zámbó Veronika (<span class="authorship-author-name">Zámbó Veronika</span> <span class="authorAux-mtmt"> Molekuláris biológia, biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000786"><a href="/gui2/?type=authors&mode=browse&sel=10000786" target="_blank">Csala Miklós ✉ (<span class="authorship-author-name">Csala Miklós</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10020321"><a href="/gui2/?type=authors&mode=browse&sel=10020321" target="_blank">Kereszturi Éva ✉ (<span class="authorship-author-name">Kereszturi Éva</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;33726454" target="_blank">Molecular Basis of Unequal Alternative Splicing of Human SCD5 and Its Alteration by Natural Genetic Variations</a></div> <div> <span class="journal-title">INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1661-6596">1661-6596</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1422-0067">1422-0067</a>)</span>: <span class="journal-volume">24</span> <span class="journal-issue">7</span> <span class="page"> Paper 6517. 18 p. </span> <span class="year">(2023)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3390/ijms24076517" target="_blank" href="https://doi.org/10.3390/ijms24076517"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001051976300001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001051976300001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85152341522" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85152341522"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="37047490" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=37047490&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="https://www.mdpi.com/1422-0067/24/7/6517" target="_blank" href="https://www.mdpi.com/1422-0067/24/7/6517"> Egyéb URL </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Inorganic Chemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Organic Chemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Spectroscopy&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Computer Science Applications&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Physical and Theoretical Chemistry&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Catalysis&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Molecular Biology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 4</span> | Független: 3 | Függő: 1 | Nem jelölt: 0 | WoS jelölt: 1 | Scopus jelölt:&nbsp;1 | WoS/Scopus jelölt:&nbsp;1 | DOI jelölt:&nbsp;3 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;33726454&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 4 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 33726454</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (FK138115) Támogató: NKFIH, (PD142709), (TKP2021-EGA-24) </div> <div class="lastModified">Utolsó módosítás: 2026.02.03. 09:57 Kondor Zóra (SE_KK_Admin5_KZ, admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Funding Agency and Grant Number: Hungarian National Research, Development and Innovation Office (NKFIH) [FK138115, PD142709, TKP2021-EGA-24]; Ministry of Innovation and Technology of Hungary from the National Research, Development and Innovation Fund [TKP2021-EGA] Funding text: This work was supported by the Hungarian National Research, Development and Innovation Office (NKFIH grant...</pre> </div></div>