Ch. Chiu et al., REDUCTION OF 2 FUNCTIONAL GAMMA-GLOBIN GENES TO ONE - AN EVOLUTIONARYTREND IN NEW-WORLD MONKEYS (INFRAORDER PLATYRRHINI), Proceedings of the National Academy of Sciences of the United Statesof America, 93(13), 1996, pp. 6510-6515
Nucleotide sequences were determined for the gamma(1)- and gamma(2)-gl
obin loci from representatives of the seven anciently separated clades
in the three extant platyrrhine families (Atelidae, Pitheciidae, and
Cebidae). These sequences revealed an evolutionary trend in New World
monkeys either to inactivate the gamma(1) gene or to fuse it with the
gamma(2) gene, i.e. to have only one functional fetally expressed gamm
a gene. This trend is clearly Evident in six of the seven clades: (i)
it occurred in atelids by deletion of most of the gamma(1) gene in til
e basal ancestor of this clade; (ii-iv) in pitheciid titi, saki, and c
ebid capuchin monkeys by potentially debilitating nucleotide substitut
ions in the proximal CCAAT box of the gamma(1) promoters; and (v and v
i) in cebid owl and squirrel monkeys by crossovers that fused 5' seque
nce from gamma(1) with 3' sequence from gamma(2). In the five clades w
ith gamma(1) and gamma(2) loci separated by intel genic sequences (the
fifth clade being the cebid marmosets), the gamma(2) genes retained a
n unaltered proximal CCAAT motif and their gamma(2) promoters accumula
ted fewer nucleotide substitutions than did the gamma(1) promoters, Th
us, phylogenetic considerations indicate that the stem platyrrhines, a
ncestral to all New World monkeys, had gamma(2) as the primary fetally
expressed gamma gene. A further inference is that when the earlier st
em anthropoid gamma gene duplicated, gamma(2) (at its greater downstre
am distance from epsilon) could evade embryonic activation by the locu
s control region but could he fetally activated once released by regul
atory mutations from fetal repressors.