Gene Discovery for Disease ModelsISBN: 978-0-470-49946-7
Hardcover
560 pages
May 2011
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This book provides readers with new paradigms on the mutation
discovery in the post-genome era. The completion of human and other
genome sequencing, along with other new technologies, such as
mutation analysis and microarray, has dramatically accelerated the
progress in positional cloning of genes from mutated models. In
2002, the Mouse Genome Sequencing Consortium stated that “The
availability of an annotated mouse genome sequence now provides the
most efficient tool yet in the gene hunter's toolkit. One can move
directly from genetic mapping to identification of candidate genes,
and the experimental process is reduced to PCR amplification and
sequencing of exons and other conserved elements in the candidate
interval. With this streamlined protocol, it is anticipated that
many decades-old mouse mutants will be understood precisely at the
DNA level in the near future.” The implication of such a
statement should be similar to the identification of mutated genes
from human diseases and animal models, when genome sequencing is
completed for them. More than five years have passed, but genes in
many human diseases and animal models have not yet been identified.
In some cases, the identification of the mutated genes has been a
bottleneck, because the genetic mechanism holds the key to
understand the basis of the diseases. However, an integrative
strategy, which is a combination of genetic mapping, genome
resources, bioinformatics tools, and high throughput technologies,
has been developed and tested. The classic paradigm of positional
cloning has evolved with completely new concepts of genomic cloning
and protocols. This book describes new concepts of gene discovery
in the post-genome era and the use of streamlined protocols to
identify genes of interest. This book helps identify not only large
insertions/deletions but also single nucleotide mutations or
polymorphisms that regulate quantitative trait loci (QTL).