Precise identification of cascading alpha satellite higher order repeats in T2TCHM13 assembly of human chromosome 3

Znanstveni rad - Rad s konferencije

• Autor: Matko Glunčić
• Autor: Ines Vlahović
• Autor: Marija Rosandić
• Autor: Vladimir Paar
• Autorova ustanova: Sveučilište u Zagrebu; Prirodoslovno-matematički fakultet; (Fizički odsjek)
• Znanstveno / umjetničko područje, polje i grana: PRIRODNE ZNANOSTI; Fizika

Sažetak (engleski)

Aim. To precisely identify and analyze alpha-satellite higher-order repeats (HORs) in T2T-CHM13 assembly of human chromosome 3. Methods. From the recently sequenced complete T2TCHM13 assembly of human chromosome 3, the precise alpha satellite HOR structure was computed by using the novel high-precision GRM2023 algorithm with global repeat map (GRM) and monomer distance (MD) diagrams. Results. The major alpha satellite HOR array in chromosome 3 revealed a novel cascading HOR, housing 17mer HOR copies with subfragments of periods 15 and 2. Within each row in the cascading HOR, the monomers were of different types, but different rows within the same cascading 17mer HOR contained more than one monomer of the same type. Each canonical 17mer HOR copy comprised 17 monomers belonging to 16 different monomer types. Another pronounced 10mer HOR array was of the regular Willard’s type. Conclusion. Our findings emphasize the complexity within the chromosome 3 centromere as well as deviations from expected highly regular patterns.

• Ključne riječi (engleski): cascading alpha satellite higher order repeats
• Jezik: engleski
• Vrsta publikacije: Znanstveni rad - Rad s konferencije
• Status objave: Objavljen
• Vrsta recenzije: Recenziran - međunarodna recenzija
• Verzija publikacije: Objavljena verzija rada (izdavačev PDF)
• Naslov časopisa: Croatian Medical Journal
• Brojčani podaci: vol. 65, 209
• p-ISSN: 0353-9504
• e-ISSN: 1332-8166
• URN:NBN: urn:nbn:hr:217:903234
• Datum objave publikacije: 2024
• Projekt: Šifra: KK.01.1.1.01.0004; Naziv (hrvatski): Provedba vrhunskih istraživanja u sklopu Znanstvenog centra izvrsnosti za kvantne i kompleksne sustave te reprezentacije Liejevih algebri; Naziv (engleski): Implementation of top research within the Scientific Center of Excellence for Quantum and Complex Systems, and Representations of Lie Algebras; Kratica: QuantiXLie; Voditelj: Hrvoje Buljan; Pravna nadležnost: eu; Financijer: Europska komisija; Linija financiranja: European Regional Development Fund
• Projekt: Šifra: IP-2019-04-2757; Naziv (hrvatski): Varijante u repetitivnim strukturama višeg reda u centromernim i NBPF dijelovima genoma čovjeka i viših primata; Naziv (engleski): Variants in higher order repeat structures in centromeric and NBPF regions of human and higher primates genomes; Kratica: HORVAR; Voditelj: Matko Glunčić; Pravna nadležnost: Hrvatska; Financijer: Hrvatska zaklada za znanost; Linija financiranja: Research Projects
• Skup: Naziv: 13th International Society for Applied Biological Sciences; Kratica: ISABS; Lokacija: Split, Hrvatska; Datum početka: 2024-06-17; Datum završetka: 2024-06-22
• URL dokumenta: http://www.cmj.hr/2024/65/3/38868967.htm
• Vrsta resursa: Tekst
• Prava pristupa: Otvoreni pristup
• Javna napomena: Received: April 10, 2024. Accepted: May 28, 2024.
• Datum i vrijeme pohrane: 2024-07-23 20:53:57