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

A Mesut Erzurumluoglu, Hashem A Shihab, Santiago Rodriguez, Tom R Gaunt, Ian N M Day

Research output: Contribution to journalArticle (Academic Journal)peer-review

33 Citations (Scopus)
328 Downloads (Pure)


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.

Original languageEnglish
Pages (from-to)187-196
Number of pages10
JournalAnnals of Human Genetics
Issue number3
Early online date22 Mar 2016
Publication statusPublished - 18 Apr 2016


  • Chromosome Mapping
  • Consanguinity
  • Gene Silencing
  • Genetics, Population
  • Genome, Human
  • Heterozygote
  • Homozygote
  • Humans
  • Phenotype


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