It Takes a Genome: How a Clash Between Our Genes and Modern Life is Making Us Sick
Page 23
the genetic tightrope of the mind
The books referenced in this section are Tom Wolfe’s I am Charlotte Simmons: A Novel (Farrar, Straus and Giroux, 2004) and Martha Stout’s The Paranoia Switch: How Terror Rewires Our Brains and Reshapes Our Behavior—and How We Can Reclaim Our Courage (Farrar, Straus and Giroux, 2007).
a kindling theory for the modern world
The kindling theory is evaluated in Kendler, K. S., L. M. Thornton, and C. O. Gardner (2000) American Journal of Psychiatry 157: 1243-1251 “Stressful life events and previous episodes in the etiology of major depression in women: an evaluation of the ‘kindling’ hypothesis.” It traces back to Emil Kraepelin: Manic-Depressive Insanity and Paranoia (Foundations of Modern Psychiatry) available in English from Thoemmes Continuum (2002), and was articulated by Segal, Z. V., J. M. Williams, J. D. Teasdale, and M. Gemar (1996) Psychological Medicine 26: 371-380 “A cognitive science perspective on kindling and episode sensitization in recurrent affective disorder.”
For an account of flies on cocaine, see Andretic, R., S. Chaney, and J. Hirsh (1999) Science 285: 1066-1068 “Requirement of circadian genes for cocaine sensitization in Drosophila.” Kindling in epilepsy and bipolar disorder is discussed in Bertram, E. (2007) Epilepsia 48 (Suppl 2): 65-74 “The relevance of kindling for human epilepsy,” and in Amann, B. and H. Grunze (2005) Epilepsia 46 (Suppl 4): 26-30 “Neurochemical underpinnings in bipolar disorder and epilepsy.”
For overviews of the addiction, see Carlton K. Erickson The Science of Addiction: From Neurobiology to Treatment (W.W. Norton, 2007), or the companion book to an HBO television series on the topic, John Hoffman and Susan Froemke’s Addiction, Why Can’t They Just Stop? New Knowledge, New Treatments, New Hope.
Chapter 7
slow walk to dementia
For a satirical view opinion about Ronald Reagan and Alzheimer’s, see www.theonion.com/content/node/27646. An actual Congressional effort to aid research in the name of the former President is an Act introduced in 2004: http://olpa.od.nih.gov/legislation/108/pendinglegislation/reagonalzheimer.asp.
An analysis of healthcare costs is by Alemayehu, B. and K. E. Warner (2004) Health Services Research 39: 627-642 “The lifetime distribution of healthcare costs.”
Elan’s AN1792 vaccine is described in Schenk, D. B., P. Seubert, M. Grundman, and R. Black (2005) Neurodegenerative Disease 2: 255-260 “A beta immunotherapy: Lessons learned for potential treatment of Alzheimer’s disease.”
alzheimer’s on the march
See Goedert, M. and B. Ghetti (2007) Brain Pathology 17: 57-62 “Alois Alzheimer: his life and times” for more about the man who first described AD.
Global population statistics and age pyramids for every country can be downloaded at www.census.gov/ipc/www/idb/.
An opinion piece on the epidemiology of AD is C. Brayne (2007) Nature Reviews 8: 233-239 “The elephant in the room—healthy brains in later life, epidemiology and public health.”
tangles and plaques
For recent discussions of the roles of Aβ and Tao in AD see Cappai, R. and K. J. Barnham (2008) Neurochemical Research 33: 526-532 “Delineating the mechanism of Alzheimer’s disease Aβ peptide neurotoxicity,” and Ballatore, C., V. M. Lee, and J. Q. Trojanowski (2007) Nature Reviews 8: 663-672 “Tau-mediated neurodegeneration in Alzheimer’s disease and related disorders.”
The correct identification of Alzheimer’s patients before death is important for the development of new drugs in clinical trials; new methods are described in Cummings, J. L., R. Doody, C. Clark (2007) Neurology 69: 1622-1634 “Disease-modifying therapies for Alzheimer disease: challenges to early intervention.” Efforts to track the course of dementia are described in R. Lambon et al. (2003) Brain 126: 2350-2362 “Homogeneity and heterogeneity in mild cognitive impairment and Alzheimer’s disease: a cross-sectional and longitudinal study of 55 cases.”
early onset FAD
The diversity of Presenilin mutations is reviewed in M. Menéndez (2004) Journal of Alzheimer’s Disease 6: 475-482 “Pathological and clinical heterogeneity of presenilin 1 gene mutations.” The spectrum of APP mutations is described in A. Kowalska (2003) Folia Neuropathology 41: 35-40 “Amyloid precursor protein gene mutations responsible for early-onset autosomal dominant Alzheimer’s disease.” An old review of the genetics of FAD is P. H. St. George-Hyslop (2000) Biological Psychiatry 47: 183-199 “Molecular genetics of Alzheimer’s disease.”
For the latest on AD and Down syndrome, see Visootsak, J. and S. Sherman (2007) Current Psychiatry Reports 9: 135-140 “Neuropsychiatric and behavioral aspects of trisomy 21.”
late onset LOAD
The original report of an association between ApoE and AD was W. J. Strittmatter et al. (1993) Proceedings of the National Academy of Science USA 90: 1977-1981 “Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.” Singh, P. P., M. Singh, and S. S. Mastana (2006) Annals of Human Biology 33: 279-308 “APOE distribution in world populations with new data from India and the UK” describe how LOAD genetic susceptibility due to ApoE is distributed around the globe.
The disconcordance between African and African American rates of AD is reported in Hendrie, H. C., J. Murrell, S. Gao, F. W. Unverzagt, A. Ogunniyi, and K. S. Hall (2006) Alzheimer Disease and Associated Disorders 20(Suppl 2): S42-S46 “International studies in dementia with particular emphasis on populations of African origin.”
A genomewide association study for LOAD has just been published: H. Li et al. (2008) Archives of Neurology 65: 45-53 “Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.” It has not yet led to any more really convincing leads.
just growing old
A list of animal life spans is at www.wonderquest.com/LifeSpan-MaxMin.htm.
A review of aging in model organisms is A. Antebi (2007) PLoS Genetics 3: e129 “Genetics of aging in Caenorhabditis elegans.” The role of FOXO in mediating stress is reviewed in van der Horst, A. and B. M. Burgering (2007) Nature Reviews Molecular Cell Biology 8: 440-450 “Stressing the role of FoxO proteins in lifespan and disease.”
A good online introduction to evolutionary theories of aging is by L. A. Gavrilov and N. S. Gavrilova (2002) The Scientific World Journal 2: 339-356 “Evolutionary theories of aging and longevity,” also at http://longevity-science.org/Evolution.htm.
The mutation accumulation theory is generally attributed to Nobel Laureate Peter Medawar, who introduced it in An Unsolved Problem of Biology (H. K. Lewis, London, 1952). The antagonistic pleiotropy theory was formalized by Williams, G. C. (1957) Evolution 11: 398-411 “Pleiotropy, natural selection and the evolution of senescence.”
http://en.wikipedia.org/wiki/Life_expectancy is an interesting site, though it is not clear where all the data and estimates come from.
Chapter 8
height and weight
The first phase genome scan for height was published by M. Weedon et al. (2007) Nature Genetics 39: 1245-1250 “A common variant of HMGA2 is associated with adult and childhood height in the general population.” A follow-up has been submitted, while a second group presented S. Sanna et al. (2008) Nature Genetics 40: 198-203 “Common variants in the GDF5-UQCC region are associated with variation in human height.”
Canine size is described in N. B. Sutter et al. (2007) Science 316: 112-115 “A single IGF1 allele is a major determinant of small size in dogs.” Spady, T. C. and E. A. Ostrander (2008) American Journal of Human Genetics 82: 10-18 “Canine behavioral genetics: pointing out the phenotypes and herding up the genes” review the genetics of dog behavior.
Several references to FTO and obesity were given in the notes to Chapter 3, “Not so Thrifty Diabetes Genes.” but interestingly, one that just came out suggests a difference in Chinese populations: H. Li et al. (2008) Diabetes 57: 264-268 “Variants in the fat mass- and obesity-associated (FTO) gene are not associated with obesity in a Chinese Han population.”
; pigmentation
For a thoughtful essay on human pigmentation, see E. J. Parra (2007) American Journal of Physical Anthropology 45 (Suppl): 85-105 “Human pigmentation variation: evolution, genetic basis, and implications for public health.” Selection on pigmentation genes is described in Lao, O., J. de Gruijter, K. van Duijn, A. Navarro, and M. Kayser (2007) Annals of Human Genetics 71(Pt 3): 354-369 “Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms.” See also a meeting review of the American Association of Physical Anthroplogists by Ann Gibbons (2007) Science 316: 364 “European skin turned pale only recently, gene suggests” Science 316: 364.
The genomewide association for eye and hair color is P. Sulem et al. (2007) Nature Genetics 39: 1443-1452 “Genetic determinants of hair, eye and skin pigmentation in Europeans.” One for skin color in Asians is R. P. Stokowski et al. (2007) American Journal of Human Genetics 81: 1119-1132 “A genomewide association study of skin pigmentation in a South Asian population.”
How a gene identified in fish was shown to impact human skin color is described in Lamason, R.L. et al. (2005) Science 310: 1782-1786 “SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.” The reference to Neanderthal skin color is C. Lalueza-Fox et al. (2007) Science 318: 1453-1455 “A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.”
Consumers are warned about the relationship between sunlight, vitamin D, and osteoporosis at www.osteoporosis.org.au/files/internal/CalciumVitD_consumer.pdf.
the God gene
The Web sites for personal genomics are https://www.23andme.com, www.decodeme.com, and www.personalgenomes.org.
J. Craig Venter’s book is A Life Decoded: My Genome: My Life (Viking Adult, 2007).
The paper describing his own genome sequence is S. Levy et al. (2007) PLoS Biology 5: e254 “The diploid genome sequence of an individual human.”
James Watson’s sequencing project can be accessed at www.454.com/watson/. For the New York Times viewpoint, see www.nytimes.com/2007/05/31/science/31cndgene.html
Dean Hamer’s two books are The God Gene: How Faith Is Hardwired into Our Genes (Anchor, 2005) and The Science of Desire: The Gay Gene and the Biology of Behavior (Touchstone, 1995).
The heritability of spirituality measure is explored in Kirk, K. M., L. J. Eaves, and N. G. Martin (1999) Twin Research 2: 81-87 “Self-transcendence as a measure of spirituality in a sample of older Australian twins.” To my knowledge, the association with VMAT2 has never been published in a peer-reviewed journal. Hamer’s group reports their latest on the genetics of sexual orientation in B. S. Mustanski et al. (2005) Human Genetics 116: 272-278 “A genomewide scan of male sexual orientation.”
a few words about IQ
The paper that showed selection on Microcephalin is P. D. Evans et al. (2005) Science 309: 1717-1720 “Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans,” while the linkage to IQ is refuted by N. Bekel-Bobrov et al. (2007) Human Molecular Genetics 16: 600-608 “The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence.”
A controversial book that touches on genetics, race, and IQ is Herrnstein, R. J. and C. Murray The Bell Curve: Intelligence and Class Structure in American Life (Free Press, 1994). For a series of articles on this matter, see American Psychologist Volume 60, Issue 1 (Jan 2005), or for an example of a blog, see http://shrinkwrapped.blogs.com/blog/2007/11/iq-genetics-and.html.
The link between breast-feeding, FAS2, and IQ is reported in A. Caspi et al. (2007) Proceedings of the National Academy of Science USA 104: 18860-18865 “Moderation of breastfeeding effects on the IQ by genetic variation in fatty acid metabolism.”
on being human
Several studies detect selection on parts of the human genome, as reviewed in Nielsen, R., I. Hellmann, M. Hubisz, C. Bustamante, and A. G. Clark (2007) Nature Reviews Genetics 8: 857-868 “Recent and ongoing selection in the human genome” and Sabetti, P. C. et al. (2006) Science 312: 1614-1620 “Positive natural selection in the human lineage.” See also Clark, A. G. et al. (2003) Science 302: 1960-1963 “Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios,” C. D. Bustamante et al. Nature 437: 1153-1157 “Natural selection on protein coding genes in the human genome,” and Haygood, R., O. Fedrigo, B. Hanson, K. Yokoyama, and G. A. Wray (2007) Nature Genetics 39:1140-1144 “Promoter regions of many neural- and nutrition-related genes have experienced positive selection during human evolution.”
The first of several studies of gene expression in human and chimpanzee brains was W. Enard et al. (2002) Science 296: 340-343 “Intra- and interspecific variation in primate gene expression patterns.” These are reviewed in Khaitovich, P., W. Enard, M. Lachmann, and S. Pääbo (2006) Nature Reviews Genetics 7: 693-702 “Evolution of primate gene expression.”
the adolescent genome revisited
A scientific synopsis of the argument in this book is in press: Gibson, G. (February 2009) Nature Reviews Genetics “Decanalization and the Origin of Complex Disease.”
About the author
Greg Gibson is Professor of Genetics at North Carolina State University in Raleigh, and of Integrative Biology at the University of Queensland, Australia. He is a leader in the new field of genomics, studying how interactions between genes and the environment affect human health and organismal evolution. He holds a Ph.D. from the University of Basel, Switzerland, and did postdoctoral work at Stanford University. He is on the editorial boards of PLoS Genetics, Current Biology, Genetics, and other leading journals, and with Spencer V. Muse, coauthored A Primer of Genome Science, one of the field’s leading textbooks, now in its third edition.
Index
a
Abacavir (antiviral drug)
ABC (antiviral drug)
acetylcholine
Acquired Immune Deficiency Syndrome. See AIDS
ADAM33 (asthma-related gene)
adaptation, quantitative reasoning for
adaptive immune response
Affymetrix
aging. See longevity
AIDS (Acquired Immune Deficiency Syndrome). See also HIV
in developing nations
disease progression of
prevention of
treatment for
airway remodeling
Albuterol
alleles. See also genes
Alzheimer's disease and
explained
origin of
allergies. See inflammatory diseases
Alzheimer, Alois
Alzheimer's disease
early onset familial Alzheimer's disease
fear of
late onset Alzheimer's disease
prevalence of
stages of
tangles and plaques in
amino acids, role in rheumatoid arthritis
amputation, diabetes and
Amyloid beta peptides
antagonistic pleiotropy
antidepressants. See treatment, for depression
ApoE (Alzheimer's disease-related gene)
appetite suppressants
arginine
arthritis. See osteoarthritis; rheumatoid arthritis
The Assault on Reason (Gore)
asthma
athletes afflicted by
environmental influences on
genes and
geographic distribution of asthma rates
hookworms and
hygiene hypothesis
pathology of
symptoms of
treatments for
atherosclerosis, diabetes and
atopy
Australia, asthma incidence in
autism
autoimmune diseases. See also immune system; inflammatory diseases
AZT (antiviral drug)
b
baby blues. See postnatal depression
balanced polymor
phisms
Begin, Menachem
behavior, genes and
belly fat, reducing
Berry, Halle
Bettis, Jerome
biochemical gene functions
biological gene functions
bipolar affective disorder
blood brain barrier
blood flow, diabetes and
blurred vision, diabetes and
brain
development
tangles and plaques in
BRCA1 (breast cancer susceptibility gene)
BRCA2 (breast cancer susceptibility gene)
breast cancer
detection of
effect of natural selection on
familial breast cancer
growth factors for
pharmacogenetics and
breastfed infants
insulin levels and
intelligence of
breathing. See respiration
bronchodilators
bubonic plague
buffering zone, effect of environment on
Butz, Earl "Rusty"
c
caloric consumption, role in weight gain
Calpain 10 (diabetes-related gene)
canalization
cancer
in AIDS patients
breast cancer
detection of
effect of natural selection on