HAP1, a new revolutionary cell model for gene editing using CRISPR-Cas9
The use of next-generation sequencing (NGS) technologies has been instrumental in the characterization of the mutational landscape of complex human diseases like cancer. But despite the enormous rise in the identification of disease candidate genetic variants, their functionality is yet to be fully...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Cell and Developmental Biology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcell.2023.1111488/full |
| _version_ | 1811160844511215616 |
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| author | Gemma Llargués-Sistac Laia Bonjoch Sergi Castellvi-Bel |
| author_facet | Gemma Llargués-Sistac Laia Bonjoch Sergi Castellvi-Bel |
| author_sort | Gemma Llargués-Sistac |
| collection | DOAJ |
| description | The use of next-generation sequencing (NGS) technologies has been instrumental in the characterization of the mutational landscape of complex human diseases like cancer. But despite the enormous rise in the identification of disease candidate genetic variants, their functionality is yet to be fully elucidated in order to have a clear implication in patient care. Haploid human cell models have become the tool of choice for functional gene studies, since they only contain one copy of the genome and can therefore show the unmasked phenotype of genetic variants. Over the past few years, the human near-haploid cell line HAP1 has widely been consolidated as one of the favorite cell line models for functional genetic studies. Its rapid turnover coupled with the fact that only one allele needs to be modified in order to express the subsequent desired phenotype has made this human cell line a valuable tool for gene editing by CRISPR-Cas9 technologies. This review examines the recent uses of the HAP1 cell line model in functional genetic studies and high-throughput genetic screens using the CRISPR-Cas9 system. It covers its use in an attempt to develop new and relevant disease models to further elucidate gene function, and create new ways to understand the genetic basis of human diseases. We will cover the advantages and potential of the use of CRISPR-Cas9 technology on HAP1 to easily and efficiently study the functional interpretation of gene function and human single-nucleotide genetic variants of unknown significance identified through NGS technologies, and its implications for changes in clinical practice and patient care. |
| first_indexed | 2024-04-10T06:04:27Z |
| format | Article |
| id | doaj.art-f1fdc130a68f410e85f8d548b109fb2a |
| institution | Directory Open Access Journal |
| issn | 2296-634X |
| language | English |
| last_indexed | 2024-04-10T06:04:27Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj.art-f1fdc130a68f410e85f8d548b109fb2a2023-03-03T04:54:02ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2023-03-011110.3389/fcell.2023.11114881111488HAP1, a new revolutionary cell model for gene editing using CRISPR-Cas9Gemma Llargués-SistacLaia BonjochSergi Castellvi-BelThe use of next-generation sequencing (NGS) technologies has been instrumental in the characterization of the mutational landscape of complex human diseases like cancer. But despite the enormous rise in the identification of disease candidate genetic variants, their functionality is yet to be fully elucidated in order to have a clear implication in patient care. Haploid human cell models have become the tool of choice for functional gene studies, since they only contain one copy of the genome and can therefore show the unmasked phenotype of genetic variants. Over the past few years, the human near-haploid cell line HAP1 has widely been consolidated as one of the favorite cell line models for functional genetic studies. Its rapid turnover coupled with the fact that only one allele needs to be modified in order to express the subsequent desired phenotype has made this human cell line a valuable tool for gene editing by CRISPR-Cas9 technologies. This review examines the recent uses of the HAP1 cell line model in functional genetic studies and high-throughput genetic screens using the CRISPR-Cas9 system. It covers its use in an attempt to develop new and relevant disease models to further elucidate gene function, and create new ways to understand the genetic basis of human diseases. We will cover the advantages and potential of the use of CRISPR-Cas9 technology on HAP1 to easily and efficiently study the functional interpretation of gene function and human single-nucleotide genetic variants of unknown significance identified through NGS technologies, and its implications for changes in clinical practice and patient care.https://www.frontiersin.org/articles/10.3389/fcell.2023.1111488/fullHAP1CRISPR-cas9genome-engineeringfunctional validationhaploidy |
| spellingShingle | Gemma Llargués-Sistac Laia Bonjoch Sergi Castellvi-Bel HAP1, a new revolutionary cell model for gene editing using CRISPR-Cas9 Frontiers in Cell and Developmental Biology HAP1 CRISPR-cas9 genome-engineering functional validation haploidy |
| title | HAP1, a new revolutionary cell model for gene editing using CRISPR-Cas9 |
| title_full | HAP1, a new revolutionary cell model for gene editing using CRISPR-Cas9 |
| title_fullStr | HAP1, a new revolutionary cell model for gene editing using CRISPR-Cas9 |
| title_full_unstemmed | HAP1, a new revolutionary cell model for gene editing using CRISPR-Cas9 |
| title_short | HAP1, a new revolutionary cell model for gene editing using CRISPR-Cas9 |
| title_sort | hap1 a new revolutionary cell model for gene editing using crispr cas9 |
| topic | HAP1 CRISPR-cas9 genome-engineering functional validation haploidy |
| url | https://www.frontiersin.org/articles/10.3389/fcell.2023.1111488/full |
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