Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions

Summary Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF) mutations which will lead to complete inactivation or dysfunction of genes. Studying consanguineous offspring with clinical phenotypes has been...

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Vydané v:Annals of human genetics Ročník 80; číslo 3; s. 187 - 196
Hlavní autori: Erzurumluoglu, A. Mesut, Shihab, Hashem A., Rodriguez, Santiago, Gaunt, Tom R., Day, Ian N.M.
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: England Wiley Subscription Services, Inc 01.05.2016
John Wiley and Sons Inc
Predmet:
autozygosity
Chromosome Mapping
complex disease
Consanguineous populations
Consanguinity
gene function
Gene Silencing
Genes
Genetics, Population
Genome, Human
Genomes
Heterozygote
Homozygote
Humans
Mendelian disease
Mutation
Phenotype
Review
complex disease
gene function
Consanguineous populations
Mendelian disease
autozygosity
ISSN:0003-4800, 1469-1809, 1469-1809
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Shrnutí:Summary Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF) mutations which will lead to complete inactivation or dysfunction of genes. Studying consanguineous offspring with clinical phenotypes has been very useful for identifying disease causal mutations. However, at present, most of the genes in the human genome have no disorder associated with them or have unknown function. This is presumably mostly due to the fact that homozygous LoF variants are not observed in outbred populations which are the main focus of large sequencing projects. However, another reason may be that many genes in the genome—even when completely “knocked out,” do not cause a distinct or defined phenotype. Here, we discuss the benefits and implications of studying consanguineous populations, as opposed to the traditional approach of analysing a subset of consanguineous families or individuals with disease. We suggest that studying consanguineous populations “as a whole” can speed up the characterisation of novel gene functions as well as indicating nonessential genes and/or regions in the human genome. We also suggest designing a single nucleotide variant (SNV) array to make the process more efficient.
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ISSN:0003-4800
1469-1809
1469-1809
DOI:10.1111/ahg.12150