Contractions and expansions in gene size and number - Human Gene Evolution - page 383

Reiter L.T., Murakami T., Koeuth T., Pentao L., Muzny D.M., Gibbs R.A., Lupski J.R. (1996) A
recombination hotspot responsible for two inherited peripheral neuropathies is located near a
mariner transposon-like element. Nature Genet . 12 : 288-297.
Riccio M.L., Rossolini G.M. (1993) Unusual clustering of Alu repeats within the 5 -flanking region

of the human lysozyme gene. DNA Sequence 4 : 129-134.
Richards R.I., Sutherland G.R. (1996) Repeat offenders: simple repeat sequences and complex
genetic problems. Hum. Mutation 8 : 1-7.
Rigat B., Hubert C., Alhenc-Gelas F., Cambien F., Corvol P., Soubrier F. (1990) An
insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half
the variance of serum enzyme levels. J. Clin. Invest . 86 : 1343-1346.
Riggins G.J., Lokey L.K., Chastain J.L., Leiner H.A., Sherman S.l., Wilkinson K.D., Warren S.T.
(1992) Human genes containing polymorphic trinucleotide repeats. Nature Genet. 2 : 186-191.
Ritchie R.J., Mattei M.G., Lalande M. (1998) A large polymorphic repeat in the pericentromeric
region of human chromosome 15q contains three partial gene duplications. Hum. Molec. Genet . 7 :
1253-1260.
Rousseau F., Heitz D., Biancalana V., Blumenfeld S., Kretz C., Boué J., Tommerup N., Van der
Hagen C., DeLozier-Blanchet C., Croquette M.-F., Gilgenkrantz S., Jalbert P., Voelckel M.-A.,
Oberlé I., Mandel J.-L. (1991) Direct diagnosis by DNA analysis of the fragile X syndrome of
mental retardation. New Engl. J. Med . 325 : 1673-1681.
Rowen L., Koop B.F., Hood L. (1996) The complete 685-kilobase DNA sequence of the human

T cell receptor locus. Science 272 : 1755-1762.
Roy S., Overton O., Redman C. (1994) Overexpression of any fibrinogen chain by HepG2 cells
specifically elevates the expression of the other two chains. J. Biol. Chem. 269 : 691-695.
Royle N.J. (1996) Telomeres, subterminal sequences, variation and turnover. In: Human Genome
Evolution , (eds. M Jackson, T Strachan, G Dover). BIOS Scientific Publishers, Oxford, pp 147-169.
Royle N.J., Baird D.M., Jeffreys A.J. (1994) A subterminal satellite located adjacent to telomeres in
chimpanzees is absent from the human genome. Nature Genet. 6 : 52-55.
Rubinsztein D.C., Amos W., Leggo J., Goodburn S., Ramesar R.S., Old J., Bontrop R., McMahon
R., Barton D.E., Ferguson-Smith M.A. (1994) Mutational bias provides a model for the evolution
of Huntington's disease and predicts a general increase in disease prevalence. Nature Genet. 7 :
525-530.
Rubinsztein D.C., Amos W., Leggo J., Goodburn S., Jain S., Li S.-H., Margolis R.L., Ross C.A.,
Ferguson-Smith M.A. (1995a) Microsatellite evolution - evidence for directionality and variation
in rate between species. Nature Genet . 10 : 337-343.
Rubinsztein D.C., Leggo J., Amos W. (1995b) Microsatellites evolve more rapidly in humans than
in chimpanzees. Genomics 30 : 610-612.
Rudert F., Zimmermann W., Thompson J.A. (1989) Intra- and interspecies analyses of the
carcinoembryonic antigen ( CEA ) gene family reveal independent evolution in primates and
rodents. J. Mol. Evol . 29 : 126-134.
Saitou N., Ueda S. (1994) Evolutionary rates of insertion and deletion in noncoding nucleotide
sequences of primates. Mol. Biol. Evol . 11 : 504-512.
Scanu A.M., Edelstein C. (1995) Kringle-dependent structural and functional polymorphism of
apolipoprotein(a). Biochim. Biophys. Acta 1256 : 1-12.
Schlötterer C., Tautz D. (1992) Slippage synthesis of simple sequence DNA. Nucleic Acids Res . 20 :
211-215.
Seidegard E., Vorachek W.R., Pero R.W., Pearson W.R. (1988) Hereditary differences in the
expression of the human glutathione transferase active on trans -stilbene oxide are due to a gene
deletion. Proc. Natl. Acad. Sci. USA 85 : 7293-7297.
Shih C.-C., Stoye J.P., Coffin J.M. (1988) Highly preferred targets for retrovirus integration. Cell 53 :
531-537.
Shih A., Coutavas E.E., Rush M.G. (1991) Evolutionary implications of primate endogenous
retroviruses. Virology 182 : 495-502.
Simon M., Phillips M., Green H., Stroh H., Glatt G., Bruns G., Latt S.A. (1989) Absence of a
single repeat from the coding region of the human involucrin gene leading to RFLP. Am. J. Hum.
Genet . 45 : 910-916.
Simon M., Phillips M., Green H. (1991) Polymorphism due to variable number of repeats in the
human involucrin gene. Genomics 9 : 576-580.