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Search: authors:"Antonio Amorim"

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Major influence of repetitive elements on disease-associated copy number variants (CNVs)

Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements may guide genomic stability which will give rise to CNVs either by non-allelic homologous recombination (NAHR) or non-homologous end joining (NHEJ). Here, we present a short...

Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response

Summary Known examples of ancient identical-by-descent genetic variants being shared between evolutionarily related species, known as trans-species polymorphisms (TSPs), result from counterbalancing selective forces acting on target genes to confer resistance against infectious agents. To date, putative TSPs between humans and other primate species have been identified for the...

In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model

Ornithine transcarbamylase deficiency (OTCD) is an X-linked inborn defect of metabolism of the urea cycle, which causes hyperamonemia. Mutations of the OTC gene have been recognized as the genetic cause underlying the OTC deficiency. The severity of the disease is associated with the type of mutation, leading either to neonatal onset of hyperammonemia or to a later appearance of...

An X-Linked Haplotype of Neandertal Origin Is Present Among All Non-African Populations

Recent work on the Neandertal genome has raised the possibility of admixture between Neandertals and the expanding population of Homo sapiens who left Africa between 80 and 50 Kya (thousand years ago) to colonize the rest of the world. Here, we provide evidence of a notable presence (9% overall) of a Neandertal-derived X chromosome segment among all contemporary human populations...

Counting the Founders: The Matrilineal Genetic Ancestry of the Jewish Diaspora

Ancestry of the Jewish Diaspora Doron M. Behar Ene Metspalu Toomas Kivisild Saharon Rosset Shay Tzur Yarin Hadid Guennady Yudkovsky Dror Rosengarten Luisa Pereira Antonio Amorim Ildus Kutuev David Gurwitz