Genome wide functional genetics in haploid cells

FEBS Letters
Ulrich Elling, Josef M Penninger

Abstract

Some organisms such as yeast or males of social insects are haploid, i.e. they carry a single set of chromosomes, while haploidy in mammals is exclusively restricted to mature germ cells. A single copy of the genome provides the basis for genetic analyses where any recessive mutation of essential genes will show a clear phenotype due to the absence of a second gene copy. Most prominently, haploidy in yeast has been utilized for recessive genetic screens that have markedly contributed to our understanding of development, basic physiology, and disease. Somatic mammalian cells carry two copies of chromosomes (diploidy) that obscure genetic analysis. Near haploid human leukemic cells however have been developed as a high throughput screening tool. Although deemed impossible, we and others have generated mammalian haploid embryonic stem cells from parthenogenetic mouse embryos. Haploid stem cells open the possibility of combining the power of a haploid genome with pluripotency of embryonic stem cells to uncover fundamental biological processes in defined cell types at a genomic scale. Haploid genetics has thus become a powerful alternative to RNAi or CRISPR based screens.

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Jun 30, 2016·Scientific Reports·Michele M P LufinoRichard Wade-Martins
Oct 21, 2016·Nature Protocols·Ido SagiNissim Benvenisty
May 12, 2019·Biology of Reproduction·Lingbo Wang, Jinsong Li
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Jun 5, 2019·Nature Protocols·Ulrich EllingGabriel Balmus
Jan 18, 2017·Journal of Cell Science·Anaïs AulasPavel Ivanov
Oct 3, 2020·Computational and Structural Biotechnology Journal·Shengyi SunLing Shuai

Related Concepts

Genetic Techniques
Haploid Cell
Genome
Chromosomes
Embryo
Genes
Genome
Germ Cells
Insecta
Laboratory mice

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