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Detecting genes and genomic regions under balancing selection in the human genome

Grant number: 12/19563-2
Support Opportunities:Scholarships abroad - Research Internship - Doctorate
Effective date (Start): February 01, 2013
Effective date (End): January 31, 2014
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Tatiana Teixeira Torres
Grantee:Bárbara Domingues Bitarello
Supervisor: Aida Andrés
Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Research place: Max Planck Society, Leipzig, Germany  
Associated to the scholarship:11/12500-2 - Maladaptation as a byproduct of adaptation: a genomic scale study, BP.DR


Although accepted as an important evolutionary process, balancing selection has been explored in few genomewide scans. The studies that did search for balancing selection in the human genome used SNP data and underpowered approaches, or sequence data restricted to the protein coding portion of the genome from few populations. Our first goal is to identify coding and non-coding regions of the genome which are candidates for balancing selection, by searching the genome for regions of increased variation and altered site frequency spectra. Having defined these targets, we will discuss the biological features of these genes compatible with balancing selection. To date, no study has scanned non-coding regions for balancing selection using resequencing data, and a genomewide study using resequencing genotypes represents an original goal. Our second goal is to take advantage of the fact that complete resequencing data is available for four human populations (1000 genomes project). This will allow us to compare whether genes under balancing selection are shared among populations, and if this sharing is related to geography. We will analyze the 1000 genomes data for 12 populations sequenced at low coverage, using SFS and HKA outlier approaches as previously implemented by Andres et. al (2009). We will evaluate NGS ascertainment bias by comparing our results to those obtained with a high-coverage dataset. (AU)

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
BITARELLO, BARBARA D.; DE FILIPPO, CESARE; TEIXEIRA, JOAO C.; SCHMIDT, JOSHUA M.; KLEINERT, PHILIP; MEYER, DIOGO; ANDRES, AIDA M.. Signatures of Long-Term Balancing Selection in Human Genomes. GENOME BIOLOGY AND EVOLUTION, v. 10, n. 3, p. 939-955, . (11/12500-2, 12/19563-2, 12/18010-0)

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