Claudia Rita Catacchio

This study characterizes HSat1B across primates, showing its evolutionary origin linked to transposable elements and lineage-specific expansion in Homininae.

The paper sequences chromosome 21 centromeres in Down syndrome families, finding extreme size asymmetry in some cases and suggesting it may be a genetic risk factor.

The paper identifies a segmental duplication-mediated deletion causing neocentromere formation in orangutans by analyzing structural and epigenetic variation.

CENdetectHOR identifies and analyzes HOR arrays in centromeres across species, revealing structural diversity and variations.

A second complete human centromere set (CHM1) plus 31 nonhuman primate centromeres reveals extensive α-satellite higher-order repeat variation, kinetochore repositioning, and saltatory emergence of new repeats.

The paper investigates the chromatin structure changes during human centromere formation, finding that it involves active transcription and open chromatin, while surrounding regions become repressed and compact.