1st Edition
by Alexey S. Kondrashov (Author)
A thought-provoking exploration of deleterious mutations in the human genome and their effects on human health and wellbeing
Despite
all of the elaborate mechanisms that a cell employs to handle its DNA
with the utmost care, a newborn human carries about 100 new mutations,
originated in their parents, about 10 of which are deleterious. A
mutation replacing just one of the more than three billion nucleotides
in the human genome may lead to synthesis of a dysfunctional protein,
and this can be inconsistent with life or cause a tragic disease.
Several percent of even young people suffer from diseases that are
caused, exclusively or primarily, by pre9;]existing and new mutations in
their genomes, including both a wide variety of genetically simple
Mendelian diseases and diverse complex diseases such as birth anomalies,
diabetes, and schizophrenia. Milder, but still substantial, negative
effects of mutations are even more pervasive. As of now, we possess no
means of reducing the rate at which mutations appear spontaneously.
However, the recent flood of genomic data made possible by
next-generation methods of DNA sequencing, enabled scientists to explore
the impacts of deleterious mutations on humans with previously
unattainable precision and begin to develop approaches to managing them.
Written by a leading researcher in the field of evolutionary genetics, Crumbling Genome
reviews the current state of knowledge about deleterious mutations and
their effects on humans for those in the biological sciences and
medicine, as well as for readers with only a general scientific literacy
and an interest in human genetics.
- Provides an extensive introduction to the fundamentals of evolutionary genetics with an emphasis on mutation and selection
- Discusses the effects of pre-existing and new mutations on human genotypes and phenotypes
- Provides a comprehensive review of the current state of knowledge in the field and considers crucial unsolved problems
- Explores
key ethical, scientific, and social issues likely to become relevant in
the near future as the modification of human germline genotypes becomes
technically feasible
Crumbling Genome is
must-reading for students and professionals in human genetics, genomics,
bioinformatics, evolutionary biology, and biological anthropology. It
is certain to have great appeal among all those with an interest in the
links between genetics and evolution and how they are likely to
influence the future of human health, medicine, and society.
