ArticleGenome research2004
Closing the gaps on human chromosome 19 revealed genes with a high density of repetitive tandemly arrayed elements.
Article in Genome research, 2004. 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, 50 citations in OpenAlex.
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- Review
- Novel strategy of multiple-locus variable number tandem repeats analysis for genetic fingerprinting of human.Genes & genomics · 2023Article
- The 'Alu-ome' shapes the epigenetic environment of regulatory elements controlling cellular defense.Nucleic acids research · 2022Article
- Highly Selective, CRISPR/Cas9-Mediated Isolation of Genes and Genomic Loci from Complex Genomes by TAR Cloning in Yeast.Current protocols · 2021Article
- A study of normal copy number variations in Israeli population.Human genetics · 2021Article
- Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.Orphanet journal of rare diseases · 2020Article
- TAR Cloning: Perspectives for Functional Genomics, Biomedicine, and Biotechnology.Molecular therapy. Methods & clinical development · 2019Review
- Variation in human chromosome 21 ribosomal RNA genes characterized by TAR cloning and long-read sequencing.Nucleic acids research · 2018Article
- Sequencing of long stretches of repetitive DNA.Scientific reports · 2016Article
- Transformation-associated recombination (TAR) cloning for genomics studies and synthetic biology.Chromosoma · 2016Review
- Possible regulatory roles of promoter g-quadruplexes in cardiac function-related genes - human TnIc as a model.PloS one · 2013Article
- Isolation of circular yeast artificial chromosomes for synthetic biology and functional genomics studies.Nature protocols · 2011Article
- Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries.Genome biology · 2011Article
- A satellite-like sequence, representing a "clone gap" in the human genome, was likely involved in the seeding of a novel centromere in macaque.Chromosoma · 2009Article
- Closing gaps in the human genome using sequencing by synthesis.Genome biology · 2009Article
- Analysis of the largest tandemly repeated DNA families in the human genome.BMC genomics · 2008Article
- Selective isolation of genomic loci from complex genomes by transformation-associated recombination cloning in the yeast Saccharomyces cerevisiae.Nature protocols · 2008Article
- SATB1-binding sequences and Alu-like motifs define a unique chromatin context in the vicinity of human immunodeficiency virus type 1 integration sites.Journal of virology · 2007Article
- Differential cis-regulation of human versus mouse TERT gene expression in vivo: identification of a human-specific repressive element.Proceedings of the National Academy of Sciences of the United States of America · 2005Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
Abstract
The reported human genome sequence includes about 400 gaps of unknown sequence that were not found in the bacterial artificial chromosome (BAC) and cosmid libraries used for sequencing of the genome. These missing sequences correspond to approximately 1% of euchromatic regions of the human genome. Gap filling is a laborious process because it relies on analysis of random clones of numerous genomic BAC or cosmid libraries. In this work we demonstrate that closing the gaps can be accelerated by a selective recombinational capture of missing chromosomal segments in yeast. The use of both methodologies allowed us to close the four remaining gaps on the human chromosome 19. Analysis of the gap sequences revealed that they contain several abnormalities that could result in instability of the sequences in microbe hosts, including large blocks of micro- and minisatellites and a high density of Alu repeats. Sequencing of the gap regions, in both BAC and YAC forms, allowed us to generate a complete sequence of four genes, including the neuronal cell signaling gene SCK1/SLI. The SCK1/SLI gene contains a record number of minisatellites, most of which are polymorphic and transmitted through meiosis following a Mendelian inheritance. In conclusion, the use of the alternative recombinational cloning system in yeast may greatly accelerate work on closing the remaining gaps in the human genome (as well as in other complex genomes) to achieve the goal of annotation of all human genes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.