Pablo S C Santos

Martin Luther University Halle-Wittenberg | MLU · Institute of Medical Epidemiology, Biostatistics, and Computer Science

Purpose The recent development of multi-gene assays for gene expression profiling has contributed significantly to the understanding of the clinically and biologically heterogeneous breast cancer (BC) disease. PAM50 is one of these assays used to stratify BC patients and individualize treatment. The present study was conducted to characterize PAM50...

Visual and olfactory floral signals play key roles in plant-pollinator interactions. In recent decades, studies investigating the evolution of either of these signals have increased considerably. However, there are large gaps in our understanding of whether or not these two cue modalities evolve in a concerted manner. Here, we characterized the vis...

Genotyping complex multigene families in novel systems is particularly challenging. Target primers frequently amplify simultaneously multiple loci leading to high PCR and sequencing artefacts such as chimeras and allele amplification bias. Most genotyping pipelines have been validated in nonmodel systems whereby the real genotype is unknown and the...

A BSTRACT Genotyping novel complex multigene systems is particularly challenging in non-model organisms. Target primers frequently amplify simultaneously multiple loci leading to high PCR and sequencing artefacts such as chimeras and allele amplification bias. Most next-generation sequencing genotyping pipelines have been validated in non-model sys...

The products of the genes of the major histocompatibility complex (MHC) are known to be drivers of pathogen resistance and sexual selection enhancing offspring genetic diversity. The MHC further influences individual odour types and social communication. However, little is known about the receptors and their volatile ligands that are involved in th...

Sexual selection involving genetically disassortative mate choice is one of several evolutionary processes that can maintain or enhance population genetic variability. Examples of reproductive systems in which choosers (generally females) select mates depending on their major histocompatibility complex (MHC) genes have been reported for several ver...

Major histocompatibility complex (MHC) genes play a pivotal role in vertebrate self/nonself recognition, parasite resistance and life history decisions. In evolutionary terms, the MHC’s exceptional diversity is likely maintained by sexual and pathogen-driven selection. Even though MHC-dependent mating preferences have been confirmed for many specie...

The Best Vitelliform Macular Dystrophy (BVMD) is an autosomal dominant macular dystrophy with variable expression and incomplete penetrance. It is characterized by the accumulation of yellowish material in the macula, causing lesion known as egg yolk- like (vitelliform), which leads to progressive loss of vision. Mutations in the BEST1 gene were re...

Bestrophinopathies are a group of inherited diseases that affect to retina in which mutations in the BEST1 gene was found to be responsible to condition. This gene was mapped in long arm to chromosome 11 (11q12.3) for Petrukhin et al. (1998) and Marquardt et al. (1998) in patients with Best Vitelliform Macular Dystrophy (BMVD). BEST1 gene have 11 e...

The odorant receptor (OR) genes constitute the largest gene family among vertebrates. While over 800 loci are present in the human genome, their allele diversity is still poorly characterized. It has been hypothesized that the products of OR genes can be relevant in the reproductive context, thereby interacting with products of genes of the Major H...

A high proportion of human recurrent spontaneous abortions (RSA) remain unexplained. The possible association between RSA and different genetic polymorphisms within the human leucocyte antigen system (HLA system, the human major histocompatibility complex) has been investigated with conflicting results since many decades. Here, we describe a case-c...

The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.

Odorant receptors (OR) are G-protein-coupled receptors that are predominantly expressed in the membrane of olfactory neurons. Members of the two OR gene clusters on the short arm of human chromosome 6 could be involved in major histocompatibility complex (MHC)-associated behavioral traits, such as olfaction-influenced mate selection and cryptic fem...

The recent sequencing and assembly of the genomes of different organisms have shown that almost all vertebrates studied in detail so far have one or more clusters of genes encoding odorant receptors (OR) in close physical linkage to the major histocompatibility complex (MHC). It has been postulated that MHC-linked OR genes could be involved in MHC-...

Self/nonself perception governs mate selection in most eukaryotic species. It relies on a number of natural barriers that act before, during and after copulation. These hurdles prevent a costly investment into an embryo with potentially suboptimal genetic and immunological properties and aim at discouraging fertilization when male and female gamete...

Microsatellites are short tandem repeats of 1-6 bp DNA fragments, which are found throughout the genome. Due to their high levels of polymorphism, many of them are used as markers for population studies. Here we report an investigation on four microsatellites (D6S273, D6S2792, STR_MICA and D6S2810) located within the major histocompatibility comple...

The best-documented example for transmission distortion (TD) to normal offspring are the t haplotypes on mouse chromosome 17. In healthy humans, TD has been described for whole chromosomes and for particular loci, but multiple comparisons have presented a statistical obstacle in wide-ranging analyses. Here we provide six high-resolution TD maps of...

Smoking behavior has been associated in two independent European cohorts with the most common Caucasian human leukocyte antigen (HLA) haplotype (A1-B8-DR3). We aimed to test whether polymorphic members of the two odorant receptor (OR) clusters within the extended HLA complex might be responsible for the observed association, by genotyping a cohort...

The situation of the Brazilian Bone Marrow Donor Program (Redome) faces several difficulties. It is necessary to increase the number of volunteer donors and also optimize the research and the communications between all the institutions involved. Information of the Brazilian bone marrow donors undergoes many steps before its registration in Redome,...

Increasing evidence suggests a correlation between mate choice, odor preference, and genetic similarity at the Major Histocompatibility Complex (MHC) in a variety of animals, including our species. The MHC is a highly polymorphic group of genes that play an important role in the immunological self/nonself recognition. Its products have been reporte...