Read Mutants Online

Authors: Armand Marie Leroi

Mutants (46 page)

321
Mice, it seems, can get by without telomerase.
See Blasco et al. (1997), Lee et al. (1998) and Rudolph et al. (1999) for telomerase-deficient mice. One worry about these results is that laboratory mice seem to have much longer telomeres than wild mice (Weinstein and Ciszek, 2002).

322
One way to prove the point would be to clone a human.
The original report on cloning Dolly was Wilmut et al. (1997). She died on 14 February 2003. Shiels et al. (1999) reported Dolly’s short telomeres. Cloned cattle appear to have perfectly normal, indeed rather long, telomeres (Lanza et al. 2000; Betts et al. 2001). There is a controversy about the healthiness of cloned animals (Cibelli et al. 2002; Wilmut, 2002). Six generations of mice have been cloned with no sign of rapid ageing – but then, they do seem to have very long telomeres.

323
Telomerase-mutant humans.
Hutchinson-Gilford syndrome (progeria)(
176670
) is caused by a mutation in the gene encoding Lamin A and C.

323
In the last ten years there has been a revolution.
See Kenyon et al. (1993) for a pioneering paper in
C. elegans
ageing studies, and Leroi (2001), Finch
and Ruvkun (2001) and Partridge and Gems (2002) for recent reviews.

326
One of the first longevity genes to be identified.
Alzheimer’s disease (
104300
). Late onset (AD2) is associated with particular polymorphisms in the apolipoprotein E gene (
107741
). For the relative risk of the ?4 allele see Corder et al. (1993); for its rarity in French centenarians see Schächter et al. (1994) and Charlesworth (1996).

327
All this seems to matter less if you are black.
For the worldwide distribution of APOE alleles and discussion of relative risk of Alzheimer’s among ethnic groups see Fullerton et al. (2000). There are two ideas why Africans may not feel the deleterious effects of the ?4 allele. First, haplotype analysis shows that their ?4 alleles are somewhat different from those in European populations. Perhaps it simply lacks the pathogenic effect. Second, perhaps it has exactly the same effect, but Africans have, at high frequency, a variant at another locus that protects them against ?4. There is no reason to favour one idea over the other. For African APOE allele frequencies see Zekraoui et al. (1997).

327
In Europeans, at least, the genetics of Alzheimer’s provide.
The early onset Alzheimer’s genes are: AD1, ?APP (
104760
); AD3, Presenilin 1 (
104311
) and AD4, Presenilin 2 (
600759
) (Charlesworth 1996).

327
These kinds of findings are only the beginning.
Heijmans et al. (2000) review the state of the centenarian gene hunt.

329
In 1994 a remarkable thing happened.
Much of the discussion on late-life mortality trends is based on Wilmoth (2000) and Wilmoth et al. (2000).

CHAPTER X: ANTHROPOMETAMORPHOSIS

335
The authors of books.
Steve Jones, in the concluding chapter of his
The language of the genes
(1993) HarperCollins, London gives a classic Utopian account of humanity’s future. Mark Ridley, in the concluding chapter of his
Mendel’s demon
(2000) Weidenfeld and Nicolson, London suggests the wacky, but interesting, idea that we might evolve huge genomes and fantastically complex life-cycles. For the ethical views of some of the less inhibited scientists see the writings of Richard Dawkins and the late William Hamilton; for the opposition see the
New York Review of Books
(New York) and the
Sunday Times
(London).

337
Race has long been under siege.
Steve Jones gives a good, if dated, account of these issues in
The language of the genes.
More recently, see Barbujani et al. (1997) and Rosenburg et al. (2002) for studies based on microsatellite loci; and Stephens et al. (2001) for single nucleotide polymorphisms.

339
The variants are known as AIMS.
For an account of the search for AIMS see Collins-Schramm et al. (2002) and Shriver et al. (2003). For an account of the molecular genetics of FY (also known as Duffy) see Li et al (1997).

340
Skull measuring has a long history.
See Bindman (2002) pp.201–21 for Camper on skull measurement (from which the quotes as well).

340
Sadly, Camper’s iconography.
See Gould (1981) for the classic debunking
work on craniometry and IQ. See Lahr (1996), Hanihara (2002) and Hennessy and Stringer (2002) for recent major craniometric studies, all of which build on the work of Bill Howells.

341
Human skulls are wonderfully diverse.
See Lahr (1996) for an authoritative treatment of recent human skull diversity. The relative prognathism of Eskimos and Australian Aborigines is calculated from Hanihara (2002) Table 3.

342
My claim that we will soon be able.
Boas published several studies on his immigrant data set, the most important of which was Boas (1912). The Rose quote is from Boyd (1955) p.299. Two recent papers, Sparks and Jantz (2002) and Gravlee et al. (2003), have reanalysed Boas’s data. The analysis done by each is somewhat different and they draw somewhat different conclusions. Sparks and Jantz (2002), however, do the critical analysis of variance – with ancestry, birthplace and their interaction as the effects. They show that there is a significant effect of birthplace and – just as one would expect from Boas’s hypothesis – a strong interaction effect. Contrary to Boas, however, the plasticity is small compared to the persistence of ancestral effects and the interactions are not of the sort that would necessarily cause skull shape to converge. They do not accuse Boas of fraud, but one cannot help but suspect that he presented those results that favoured his hypothesis and ignored those that did not. Gould (1981) p.108 cites Boas with approval.

347
They are only the latest casualties.
See notes to Chapter VI for the history of the negritos as well as the various essays in McEwan et al. (1997) for a history of the Selk’nam and their legend and their fate.

348
‘Beauty,’ says the philosopher.
See Scarry (2000) p.4 for beauty and the impulse to reproduce. See Plato,
The symposium
(trans. W. Hamilton. 1951. Penguin Books, Harmondsworth, UK) p.87 for the same. See Darwin (1871, 1981) Vol. 2 p.92 for the Argus pheasant. See Bindman (2002) for a survey of eighteenth-century aesthetic theory with respect to race. See Darwin (1871, 1981) V0I.2 pp.342–54 on the particularity of beauty.

351
The universality of beauty’s standard.
See Thornhill and Gangestad (1999) for a survey of the recent literature on facial attractiveness. See Perrett et al. (1994) for a classical study on the perception of female beauty. What Brazilians say is recorded (with delight) by the late William Hamilton in
The narrow roads of gene land
(2002, Oxford University Press, Oxford) Vol. 2 p.677. Many of the ideas about the meaning of beauty expressed in this chapter can be traced to Hamilton’s writings.

353
The effects of poor childhood nutrition.
For the genetics of the face see Winter (1996). For spontaneous abortion as an adaptation to eliminate defective embryos see Forbes (1997).

354
Mutation is a game of chance.
See Crow (2000) for the number of deleterious mutations and a model of truncation selection.

356
Beauty, Stendhal says.
Stendhal,
De l’amour
(Folio, Paris) p.59.

BIBLIOGRAPHY

Abbott, M.E. and J. Kaufmann. 1916. Double monster of Janus type: cephalothoracopagus monosymmetros cyclops synotis.
Bulletin of the International Association of Medical Museums
6: 95–101

Abramowicz, M.J. et al. 1992. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goitre.
Journal of Clinical Investigation
90: 1200–4

Abu-Abed, S. et al. 2001. The retinoic acid-metabolising enzyme CYP26A1, is essential for normal hindbrain patterning, vertebral identity and development of posterior structures.
Genes and Development
15: 226–40

Addison, J. 1721.
The battel
[sic]
of the pygmies and cranes.
London

Adelmann, H.B. 1936a. The problem of Cyclopia I.
Quarterly Review of Biology
II: 161–82

Adelmann, H.B. 1936b. The problem of Cyclopia II.
Quarterly Review of Biology
11: 284–304

Afzelius, B. 1976. A human syndrome caused by immotile cilia.
Science
193: 317–19

Alberch, P. 1986. Possible dogs.
Natural History
95: 4–8

Alberts, B. et al. 1994.
The molecular biology of the cell.
Garland, N.Y.

Albin, R.L. 1988. The pleiotropic gene theory of senescence: supportive evidence from human genetic disease.
Ethology and Sociobiology
9: 371–82

Aldrovandi, U. 1642.
Monstrorum historia.
Bononiae

Ames, B.N. et al. 1993. Oxidants, antioxidants, and the degenerative diseases of ageing.
Proceedings of the National Academy of Sciences, USA
90:7915–22

Anon. 1829a.
Bulletin des sciences médicales
18: 169–72

Anon. 1829b.
La Clinique
1: 200

Anon. 1829c.
La Clinique
1: 254–5

Appel, T. 1987.
The Cuvier–Geoffroy debate: French biology in the decade before Darwin
Oxford University Press, Oxford, UK

Aristotle. 1984.
The complete works of Aristotle: the revised Oxford translation
J. Barnes (ed.) Princeton University Press, Princeton, N.J.

Aterman, K. 1999. From Horus the child to Hephaestus who limps: a romp through history.
American Journal of Medical Genetics
83: 53–63

Bachiller, D. et al. 2000. The organiser factors chordin and noggin are required for mouse forebrain development.
Nature
403: 658–61

Bacon, F. 1620 (2000).
The new organon.
L. Jardine and M. Silverthorne (eds) Cambridge Unversity Press, Cambridge, UK

Baker, J.R. 1974.
Race.
Oxford University Press, N.Y.

Balemans, W. et al. 2001. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
Human Molecular Genetics
10: 537–43

Baljet, B. 1990. The cyclopic monsters of the Vrolik collection.
Actes du 5e colloque de conservateurs des musées d’histoire des sciences médicales 66–78.

Baljet, B. and M.L. Öjesjö. 1994. Teratology in art or the Dysmorphology–Hieronymus Bosch Connection.
Actes du 7e colloque des conservateurs des musées d’histore des sciences médicales

Baljet, B. and R.–J. Oostra. 1998. Historical aspects of the study of malformations in the Netherlands.
American journal of Medical Genetics
77: 91–9

Baljet, B. et al. 1991. Willem Vrolik on cyclopia.
Documenta Opthalmologica
77: 355–68

Bamshad, M. et al. 1999. Reconstructing the history of human limb development: lessons from birth defects.
Pediatric Research
45: 291–9

Barbin, H. 1980.
Herculine Barbin: being the recently discovered memoirs of a nineteenth century French hermaphrodite
(intro. M. Foucault, trans. R. McDougall). Pantheon, N.Y.

Barbujani, G. et al. 1997. An apportionment of human DNA diversity.
Proceedings of the National Academy of Sciences USA
94 4516–19

Barinaga, M. 1993. New protein appears to be long-sought neural inducer.
Science
262: 653–54

Barrett, D. and M. McCann. 1980. Two-toed man.
Sunday Times Magazine
28–31

Barsh, G. 1999. Of ancient tales and hairless tails.
Nature Genetics
22:315–16

Bartke, A. et al. 2001a. Longevity – extending the lifespan of long-lived mice.
Nature
414: 412

Bartke, A. et al. 2001b. Prolonged longevity of hypopituitary dwarf mice.
Experimental Gerontology 36:
21–8

Bates, A.W. 2001. The
De monstrorum
of Fortunio Liceti: a landmark of descriptive teratology.
Journal of Medical Biography
9: 49–54

Bateson, W. 1894.
Materials for the study of variation.
Macmillan, London

Bazopoulou-Kyrkanidou, E. 1997. What makes Hephaestus lame?
American Journal of Medical Genetics
72: 144–55

Beckman, K.B. and B.N. Ames. 1998. The free radical theory of ageing matures.
Physiological Reviews
78: 547–81

Beddington, R.S.P. 1994. Induction of a second neural axis by the mouse node.
Development
120: 613–20

Beddington, R.S.P. and E.J. Robertson. 1999. Axis development and early asymmetry in mammals.
Cell
96: 195–209

Bell, A.G. 1918.
The duration of life and conditions associated with longevity.
Genealogical Record Office, Washington, DC

Bendyshe, T. 1864. On the anthropology of Linnaeus.
Memoires of the Anthropological Society of London
1: 421–58

Besser, G.M. and M.O. Thorner. 1994.
Clinical endocrinology
(2nd ed.) Ch. 11. Mosby-Wolfe, London

Betts, D.H. et al. 2001. Reprogramming of telomerase activity and rebuilding of telomere length in cloned cattle.
Proceedings of the National Academy of Sciences, USA
98: 1077–82

Bindman, D. 2002.
Ape to Apollo: aesthetics and the idea of race in the eighteenth century.
Reaktion, London

Other books

Judgement Day by Michael Spears
Telegraph Hill by John F. Nardizzi
Sarah Gabriel by Highland Groom
The Third Victim by Lisa Gardner
Gilgi by Irmgard Keun
Pumpkinflowers by Matti Friedman
Angel Baby by Leslie Kelly
The Guns of Empire by Django Wexler