ArticleBMC biology2011
Haploinsufficiency and the sex chromosomes from yeasts to humans.
Article in BMC biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- Targeting mosquito X-chromosomes reveals complex transmission dynamics of sex ratio distorting gene drives.Nature communications · 2024Article
- Haploinsufficiency of the sex-determining genes atiScience · 2022Article
- Single-cell analysis reveals X upregulation is not global in pre-gastrulation embryos.iScience · 2022Article
- Recombination suppression and evolutionary strata around mating-type loci in fungi: documenting patterns and understanding evolutionary and mechanistic causes.The New phytologist · 2021Review
- The Female-Specific W Chromosomes of Birds Have Conserved Gene Contents but Are Not Feminized.Genes · 2020Article
- Why haploinsufficiency persists.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Chromosome-wide mechanisms to decouple gene expression from gene dose during sex-chromosome evolution.eLife · 2016Article
- Developmental Dynamics of X-Chromosome Dosage Compensation by the DCC and H4K20me1 in C. elegans.PLoS genetics · 2015Article
- Facts and artifacts in studies of gene expression in aneuploids and sex chromosomes.Chromosoma · 2014Review
- Article
- Sex-determination system in the diploid yeast Zygosaccharomyces sapae.G3 (Bethesda, Md.) · 2014Article
- Copy-number variation of cancer-gene orthologs is sufficient to induce cancer-like symptoms in Saccharomyces cerevisiae.BMC biology · 2013Article
- Should Y stay or should Y go: the evolution of non-recombining sex chromosomes.BioEssays : news and reviews in molecular, cellular and developmental biology · 2012Review
- Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.Journal of medical genetics · 2012Article
- The sex-specific region of sex chromosomes in animals and plants.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2012Review
- Dosage compensation of the sex chromosomes.Annual review of genetics · 2012Review
- Article
- Evolutionary erosion of yeast sex chromosomes by mating-type switching accidents.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- Error prevention and mitigation as forces in the evolution of genes and genomes.Nature reviews. Genetics · 2011Review
- Mechanisms of chromosome number evolution in yeast.PLoS genetics · 2011Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
backgroundHaploinsufficient (HI) genes are those for which a reduction in copy number in a diploid from two to one results in significantly reduced fitness. Haploinsufficiency is increasingly implicated in human disease, and so predicting this phenotype could provide insights into the genetic mechanisms behind many human diseases, including some cancers.
resultsIn the present work we show that orthologues of Saccharomyces cerevisiae HI genes are preferentially retained across the kingdom Fungi, and that the HI genes of S. cerevisiae can be used to predict haploinsufficiency in humans. Our HI gene predictions confirm known associations between haploinsufficiency and genetic disease, and predict several further disorders in which the phenotype may be relevant. Haploinsufficiency is also clearly relevant to the gene-dosage imbalances inherent in eukaryotic sex-determination systems. In S. cerevisiae, HI genes are over-represented on chromosome III, the chromosome that determines yeast's mating type. This may be a device to select against the loss of one copy of chromosome III from a diploid. We found that orthologues of S. cerevisiae HI genes are also over-represented on the mating-type chromosomes of other yeasts and filamentous fungi. In animals with heterogametic sex determination, accumulation of HI genes on the sex chromosomes would compromise fitness in both sexes, given X chromosome inactivation in females. We found that orthologues of S. cerevisiae HI genes are significantly under-represented on the X chromosomes of mammals and of Caenorhabditis elegans. There is no X inactivation in Drosophila melanogaster (increased expression of X in the male is used instead) and, in this species, we found no depletion of orthologues to yeast HI genes on the sex chromosomes.
conclusionA special relationship between HI genes and the sex/mating-type chromosome extends from S. cerevisiae to Homo sapiens, with the microbe being a useful model for species throughout the evolutionary range. Furthermore, haploinsufficiency in yeast can predict the phenotype in higher organisms.
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