Approaching genetics through the MHC lens: tools and methods for HLA research

V Douillard, EC Castelli, SJ Mack, JA Hollenbach… - Frontiers in …, 2021 - frontiersin.org
The current SARS-CoV-2 pandemic era launched an immediate and broad response of the
research community with studies both about the virus and host genetics. Research in …

Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

MS Naslavsky, MO Scliar, GL Yamamoto… - Nature …, 2022 - nature.com
As whole-genome sequencing (WGS) becomes the gold standard tool for studying
population genomics and medical applications, data on diverse non-European and admixed …

MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals

EC Castelli, MV De Castro, MS Naslavsky… - Frontiers in …, 2021 - frontiersin.org
Despite the high number of individuals infected by severe acute respiratory syndrome
coronavirus 2 (SARS-CoV-2) who develop coronavirus disease 2019 (COVID-19) symptoms …

HLA associations, somatic loss of HLA expression, and clinical outcomes in immune aplastic anemia

Y Zaimoku, BA Patel, SD Adams… - Blood, The Journal …, 2021 - ashpublications.org
Immune aplastic anemia (AA) features somatic loss of HLA class I allele expression on bone
marrow cells, consistent with a mechanism of escape from T-cell–mediated destruction of …

Comparison between qPCR and RNA-seq reveals challenges of quantifying HLA expression

VRC Aguiar, EC Castelli, RM Single, A Bashirova… - Immunogenetics, 2023 - Springer
Human leukocyte antigen (HLA) class I and II loci are essential elements of innate and
acquired immunity. Their functions include antigen presentation to T cells leading to cellular …

How HLA diversity is apportioned: influence of selection and relevance to transplantation

AS Maróstica, K Nunes, EC Castelli… - … of the Royal …, 2022 - royalsocietypublishing.org
In his 1972 paper 'The apportionment of human diversity', Lewontin showed that, when
averaged over loci, genetic diversity is predominantly attributable to differences among …

MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil

EC Castelli, MV de Castro, MS Naslavsky… - Frontiers in …, 2022 - frontiersin.org
Background Although aging correlates with a worse prognosis for Covid-19, super elderly
still unvaccinated individuals presenting mild or no symptoms have been reported …

HLA-G genetic diversity and evolutive aspects in worldwide populations

EC Castelli, BS de Almeida, YCN Muniz, NSB Silva… - Scientific reports, 2021 - nature.com
HLA-G is a promiscuous immune checkpoint molecule. The HLA-G gene presents
substantial nucleotide variability in its regulatory regions. However, it encodes a limited …

The oldest unvaccinated Covid-19 survivors in South America

MV de Castro, MVR Silva, MS Naslavsky, MO Scliar… - Immunity & …, 2022 - Springer
Background Although older adults are at a high risk of severe or critical Covid-19, there are
many cases of unvaccinated centenarians who had a silent infection or recovered from mild …

Contribution of unfixed transposable element insertions to human regulatory variation

C Goubert, NA Zevallos… - … Transactions of the …, 2020 - royalsocietypublishing.org
Thousands of unfixed transposable element (TE) insertions segregate in the human
population, but little is known about their impact on genome function. Recently, a few studies …