Priscillia Siswara

TL;DR: The data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications.

TL;DR: The results suggest that the evolutionary properties of copy-number mutation differ significantly from other forms of genetic mutation and, in contrast to the hominid slowdown of single-base-pair mutations, there has been a genomic burst of duplication activity at this period during human evolution.

TL;DR: Comparative sequence analysis of New World and Old World monkey species shows that the single-copy IRGM gene became pseudogenized and was then resurrected through a series of complex structural events and suggest remarkable functional plasticity where alleles experience diverse evolutionary pressures over time.

TL;DR: Six large inversion polymorphisms that map to regions associated with genomic disorders with complex segmental duplications mapping at the breakpoints are characterized using sequence-based, cytogenetic and genotyping approaches and evidence is provided that most of these inversions appear to have arisen on at least two different haplotype backgrounds.

TL;DR: The genomic organization and expression of the core duplicon on chromosome 17 that led to the expansion of LRRC37 during primate evolution is investigated and transfection studies in HeLa cells indicate that the human FLAG-tagged recombinantLRRC37 protein is secreted after cleavage of a transmembrane precursor and its overexpression can induce filipodia formation.