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menace to research, to the reputation of those who do it, but others have been used as a model for a rare blood-
and to the public understanding of what has and has not platelet disease and yet others for cancer. And why do
been achieved. animals with a mottled coat tend to accumulate copper,
All this makes The Daily Mail headline and its fellows as in Menkes’ disease? Some of these odd parallels are
look pretty murky but the problem is wider and deeper understood and some are not, but all point at the dangers
than that. Geneticists have failed to remind the public of talking about genes as if they are instruction manuals
what the word “genetic” actually means. Heritability for a simple piece of bodily machinery.
implies that gene and environment work, or might be As Darwin noticed, cats are more captivating than
persuaded to work, together. Why, after all, are taxpayers mice. I often insinuate them into my lectures, although
spending money on the double helix if there is no hope the students tend to groan when I mention purrphyria
of an environmental intervention—a drug, a change in and phenylkittenuria. A separate mutation within the
lifestyle, or cancer surgery after the early diagnosis of a tyrosinase locus involves a substitution of a G for an A in
somatic mutation—to help those at risk from what they the DNA and the shift of a glycine to an arginine in the
inherit? Everyone in the trade knows this although they relevant protein. That tiny error gives us the Siamese. It
fail to mention it except to their first-year undergraduate has an important message for the Bad Seeders.
classes. Transcripts of their lectures should be sent out The animal’s pattern, with a black face, nose, ears
with every press release. and tail (and, if it is a gentleman cat, black testicles) is
I often talk to my own beginning undergraduates certainly genetic and, like the albino mutation, results
about the coat colour mutations of mice. Classics of from instability in the enzyme. However, the damage
Mendelism, they illustrate the elegance and simplicity of is slight compared to that responsible for true albinism
its rules. By the time those students graduate, though, and as a result the protein works fine in the cold, but
they have—I hope—been let into the secret of just how not in the warm. This means that the mutation is
messy the mouse really is, how equivocal is the statement temperature sensitive. The colder parts of the body
that a particular gene codes for coat colour, and how the (including the testicles, the coolest bits of all) can make
same mutation may do very different jobs in different melanin and are black, but the warm body mass lacks the
circumstances. In the press release culture, by contrast, dark pigment.
genes do one thing at a time, every quality has its codon, Inside every Siamese is a black cat struggling to get
and all that is inborn is inevitable. out. If a mutant kitten is kept in a chilly room it will grow
Ambiguity about inheritance has a distinguished dark hair; while in a hothouse it will be as white as was
history, for Charles Darwin himself noted that blue- Darwin’s blue-eyed pet. Proud owners have even been
eyed white cats are deaf—that the same inherited known to shave their favourite’s initial on its flank so
Further reading
error can have what at first sight seem to be entirely that the bald and cool section goes black and the animal
Bollag G, Hirth P, Tsai J, et al.
unrelated effects. Darwin’s cat had an error in a gene can strut the streets with pride. For the Siamese, as for Clinical efficacy of a RAF inhibitor
coding for tyrosinase that, when it goes wrong, blocks almost everything else, nature and nurture work together needs broad target blockade in
the production of melanin. The syndrome is less simple and the cat’s appearance could (in principle at least) be BRAF-mutant melanoma.
Nature 2010; 467: 596–99.
than it seems. Not only are some albino cats, mice, and modified with equal efficiency either by sophisticated
Beckers J, Wurst W, Hrabé de
people deaf (the deafness coming from the unmet need gene therapy or by the simple twiddle of changing Angelis M. Towards better mouse
for the enzyme in the brain); but they often have poor the thermostat. Indeed, the recent discovery that models: enhanced genotypes,
eyesight because of a lack of the melanin that helps to mouse mutants can have their looks altered by feeding systemic phenotyping and
envirotype modelling.
guide the fibres of the optic nerve during development. their mothers chemicals that alter gene expression Nat Rev Genet 2009; 10: 371–80.
That complicated triple problem can arise from errors in shows just how intricate is the path from helix to hair Schmidt-Kuntzel A, Eizirik E,
several distinct coat-colour genes. They include genes colour, and opens up the exciting prospect of an anti- O’Brien SJ, et al. Tyrosinase and
known as pink-eyed dilution, snowflake, quicksilver, grey Siamese pill. tyrosinase related protein 1
alleles specify domestic cat coat
goose, and even Dorian Grey and are scattered across much The multiply mutated mouse and the black-faced cat are
color phenotypes of the albino
of the genome where their structure suggests that they marvellous examples of how what seems simple is not, of and brown loci. J Hered 2005;
do bafflingly diverse jobs. how nature and nurture work together, and of how little 96: 289–301.
In addition, many mouse colour changes resemble geneticists understand about their own science. Might Youngson NA, Whitelaw E.
Transgenerational epigenetic
human disease genes at the molecular level, although the same, perhaps, even be true for attention deficit
effects. Ann Rev Genomics Hum
quite why is often obscure. A certain black mutant is hyperactivity disorder? Genet 2008; 9: 233–57.
a pretty accurate model of the nervous degeneration Williams NM, Zaharieva I,
found in Creutzfeldt-Jakob disease, whereas a yellow Steve Jones Martin A, et al. Rare chromosomal
variant that makes its bearers fat might say something deletions and duplications in
Department of Genetics, Environment and Evolution, University
attention-deficit hyperactivity
about the inheritance of human obesity. Some mice College London, London WC1E 6BT, UK disorder: a genome-wide analysis.
with a white spot on the belly tend to develop cataracts, steve.jones@ucl.ac.uk Lancet 2010; 376: 1401–09