Original scientific paper
https://doi.org/10.3325/cmj.2024.65.209
Precise identification of cascading alpha satellite higher order repeats in T2TCHM13 assembly of human chromosome 3
Matko Glunčić
; Faculty of Science, University of Zagreb, Zagreb, Croatia
*
Ines Vlahović
; Algebra University College, Zagreb, Croatia
Marija Rosandić
; University Hospital Center Zagreb (Ret.), Zagreb, Croatia
Vladimir Paar
; Croatian Academy of Sciences and Arts, Zagreb, Croati
* Corresponding author.
Abstract
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.
Keywords
Hrčak ID:
332021
URI
Publication date:
16.6.2024.
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