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

Pershouse, Mark A.; Li, Jiewen; Yang, Chun; Su, Hua; Brundage, Ellen K.; Di, Weimei; Biggs, Patrick J.; Bradley, Allan; Chinault, A. Craig

doi:10.1006/geno.2000.6323

Cited by 2 publications

(2 citation statements)

References 12 publications

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“…As a part of the Mouse Genome Sequencing Consortium, we sequenced mouse Chromosome 11 in the C57BL/6J mouse strain. The 2002 draft mouse genome reported 8681 gaps in mouse Chromosome 11, and was estimated to lack 4.3 Mb of sequence, despite a good shotgun assembly and a physical map [3]. Using clone-by-clone sequencing of the physical map of mouse Chromosome 11, we have assembled this chromosome into a near contiguous sequence with the highest quality of any mouse chromosome assembly (completed sequence is available in the NCBI assembly of the mouse genome at www.ensembl.org).…”

Section: Introductionmentioning

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: Introductionmentioning

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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“…At present, several cases of successful positional cloning in human and mouse [27][28][29], as well as one case in dairy cattle [30], have been reported. In the latter study, the region having the highest effect on milk fat content was cloned.…”

Section: Application Of Large-insert Libraries For Molecular Cytogenementioning

confidence: 95%

Libraries of Large-Insert Genomic Clones as a Tool for Molecular Cytogenetic Analysis of Avian Genome

2005

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Integration of molecular and cytegenetic levels of investigation results in complex understanding of structural and functional genome organization. Gridded libraries of large-insert genomic clones represent a powerful tool of the genome analysis. Their utilization provides coordination of data on molecular organization of nucleic acids with cytogenetic data on the chromosome structure. These libraries played an important role in sequencing of genomes of human, mouse, and other organisms as an instrument linking molecular biological and cytogenetic data via construction of contigs and their localization on the chromosomes. They also enabled analysis of orthology between the mammalian genomes. The existing avian libraries fit molecular cytogenetic analysis of the class Aves genome, and can be successfully used for the isolation and characterization of large genomic fragments. This provides utilization of these libraries not only for the chromosome mapping, but also for positional cloning and search for candidate genes for quantitative traits.

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

Cited by 2 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

Libraries of Large-Insert Genomic Clones as a Tool for Molecular Cytogenetic Analysis of Avian Genome

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