An Integrated Gene and SSLP BAC Map Framework of Mouse Chromosome 11

Kłysik, Jan; Cai, Wei-Wen; Yang, Chun; Bradley, Allan

doi:10.1006/geno.1999.5973

Cited by 3 publications

(2 citation statements)

References 12 publications

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“…The sequence of mouse Chromosome 11 (∼4.6% of the mouse genome) was generated by sequencing 910 bacterial artificial chromosomes (BACs) from a linear physical array [8],[9]. The clone-by-clone sequencing of this chromosome generated over 4 million raw sequence reads, which were collapsed into 118.8 Mb of finished sequence.…”

Section: Resultsmentioning

confidence: 99%

Discovery of Candidate Disease Genes in ENU–Induced Mouse Mutants by Large-Scale Sequencing, Including a Splice-Site Mutation in Nucleoredoxin

et al. 2009

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An accurate and precisely annotated genome assembly is a fundamental requirement for functional genomic analysis. Here, the complete DNA sequence and gene annotation of mouse Chromosome 11 was used to test the efficacy of large-scale sequencing for mutation identification. We re-sequenced the 14,000 annotated exons and boundaries from over 900 genes in 41 recessive mutant mouse lines that were isolated in an N-ethyl-N-nitrosourea (ENU) mutation screen targeted to mouse Chromosome 11. Fifty-nine sequence variants were identified in 55 genes from 31 mutant lines. 39% of the lesions lie in coding sequences and create primarily missense mutations. The other 61% lie in noncoding regions, many of them in highly conserved sequences. A lesion in the perinatal lethal line l11Jus13 alters a consensus splice site of nucleoredoxin (Nxn), inserting 10 amino acids into the resulting protein. We conclude that point mutations can be accurately and sensitively recovered by large-scale sequencing, and that conserved noncoding regions should be included for disease mutation identification. Only seven of the candidate genes we report have been previously targeted by mutation in mice or rats, showing that despite ongoing efforts to functionally annotate genes in the mammalian genome, an enormous gap remains between phenotype and function. Our data show that the classical positional mapping approach of disease mutation identification can be extended to large target regions using high-throughput sequencing.

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Section: Resultsmentioning

confidence: 99%

Discovery of Candidate Disease Genes in ENU–Induced Mouse Mutants by Large-Scale Sequencing, Including a Splice-Site Mutation in Nucleoredoxin

et al. 2009

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“…Assuming an average inversion length to be about 25 cM, 60 different strains must be developed to cover the entire mouse genome. By facilitating the design of targeting vectors, genomic probes, and markers (Zheng et al, 1999;Klysik et al, 1999), the emergence of a fully annotated mouse genomic sequence will undoubtedly help to accelerate this process (Rogers & Bradley, 2001).…”

Section: Engineering Chromosomal Inversions and Balancersmentioning

confidence: 99%

Mice and humans: chromosome engineering and its application to functional genomics.

Kłysik

2002

Acta Biochim Pol

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Functional modeling of human genes and diseases requires suitable mammalian model organisms. For its genetic malleability, the mouse is likely to continue to play a major role in defining basic genetic traits and complex pathological disorders. Recently, gene targeting techniques have been extended towards developing new engineering strategies for generating extensive lesions and rearrangements in mouse chromosomes. While these advances create new opportunities to address similar aberrations observed in human diseases, they also open new ways of scaling-up mutagenesis projects that try to catalogue and annotate cellular functions of mammalian genes.

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BAC Contig from a 3-cM Region of Mouse Chromosome 11 Surrounding Brca1

Pershouse

Yang

et al. 2000

Genomics

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An Integrated Gene and SSLP BAC Map Framework of Mouse Chromosome 11

Cited by 3 publications

References 12 publications

Discovery of Candidate Disease Genes in ENU–Induced Mouse Mutants by Large-Scale Sequencing, Including a Splice-Site Mutation in Nucleoredoxin

Discovery of Candidate Disease Genes in ENU–Induced Mouse Mutants by Large-Scale Sequencing, Including a Splice-Site Mutation in Nucleoredoxin

Mice and humans: chromosome engineering and its application to functional genomics.

BAC Contig from a 3-cM Region of Mouse Chromosome 11 Surrounding Brca1

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