NDLI: Closing the Gaps on Human Chromosome 19 Revealed Genes With a High Density of Repetitive Tandemly Arrayed Elements

Content Provider	PubMed Central
Author	Leem, Sun-hee Kouprina, Natalay Grimwood, Jane Kim, Jung-hyun Mullokandov, Michael Yoon, Young-ho Chae, Ji-youn Morgan, Jenna Lucas, Susan Richardson, Paul Detter, Chris Glavina, Tijana Rubin, Eddy Barrett, J. Carl Larionov, Vladimir
Copyright Year	2004
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 ∼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.
Related Links	http://dx.doi.org/10.1101/gr.1929904
Ending Page	246
Page Count	8
Starting Page	239
File Format	PDF
ISSN	10889051
Journal	Genome Research
Issue Number	2
Volume Number	14
Language	English
Publisher	Cold Spring Harbor Laboratory Press
Publisher Date	2004-02-01
Access Restriction	Open
Rights Holder	Cold Spring Harbor Laboratory Press
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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