DNA Chunks, Chimps And

Humans: Marks Of Diferences

Between Human And Chimp
Genomes
ScienceDaily (Nov. 6, 2008) Researchers have carried out the largest study
of dierences !et"een hu#an and chi#$an%ee geno#es, identifying regions
that have !een du$licated or lost during evolution of the t"o lineages. &he
study, $u!lished in 'eno#e Research, is the (rst to co#$are #any hu#an
and chi#$an%ee geno#es in the sa#e fashion.

See Aso:
Heath ! Medicine
)u#an *iology
'enes
"ants ! Animas
+$es
,volutionary *iology
#ossis ! $uins
,arly )u#ans
)u#an ,volution
$eference
-o#$utational geno#ics
-hi#$an%ee
)u#an geno#e
-o##on -hi#$an%ee
&he tea# sho" that $articular ty$es of genes . such as those involved in the
in/a##atory res$onse and in control of cell $roliferation . are #ore
co##only involved in gain or loss. &hey also $rovide ne" evidence for a
gene that has !een associated "ith susce$ti!ility to infection !y )01.
2&his is the (rst study of this scale, co#$aring directly the geno#es of #any
hu#ans and chi#$an%ees,2 says Dr Richard Redon, fro# the 3ellco#e &rust
Sanger 0nstitute, a leading author of the study. 2*y loo4ing at only one
5reference5 se6uence for hu#an or chi#$an%ee, as has !een done $reviously,
it is not $ossi!le to tell "hich dierences occur only a#ong individual
chi#$an%ees or hu#ans and "hich are dierences !et"een the t"o s$ecies.
2&his is our (rst vie" of those t"o i#$ortant legacies of evolution.2
Rather than e7a#ining single.letter dierences in the geno#es (so.called
SN8s), the researchers loo4ed at co$y nu#!er variation (-N1) . the gain or
loss of regions of DN+. -N1s can aect #any genes at once and their
signi(cance has only !een fully a$$reciated "ithin the last t"o years. &he
tea# loo4ed at geno#es of 90 chi#$an%ees and 90 hu#ans: a direct
co#$arison of this scale or ty$e has not !een carried out !efore.
&he co#$arison uncovered -N1s that are $resent in !oth s$ecies as "ell as
co$y nu#!er dierences (-NDs) !et"een the t"o s$ecies. -NDs are li4ely to
include genes that have in/uenced evolution of each s$ecies since hu#ans
and chi#$an%ees diverged so#e si7 #illion years ago.
2*roadly, the t"o geno#es have si#ilar $atterns and levels of -N1s . around
;0.80 in each individual . of "hich nearly half occur in the sa#e regions of
the t"o s$ecies5 geno#es,2 continues Dr Redon. 2*ut !eyond that si#ilarity
"e "ere a!le to (nd intriguing evidence for 4ey sets of genes that dier
!et"een us and our nearest relative.2
<ne of the genes aected !y -N1s is --=9=>, for "hich lo"er co$y nu#!ers
in hu#ans have !een associated "ith increased susce$ti!ility to )01
infection. Re#ar4a!ly, the study of 60 hu#an and chi#$an%ee geno#es
found no evidence for (7ed -NDs !et"een hu#an and chi#$ and no "ithin.
chi#$ -N1. Rather, they found that a near!y gene called &*->D9 "as
reduced in nu#!er in chi#$an%ee co#$ared to hu#an: ty$ically, there "ere
eight co$ies in hu#an, !ut a$$arently only one in all chi#$an%ees.
&he authors suggest that it #ight !e evolutionary selection of -NDs in
&*->D9 that have driven the $o$ulation dierences. -onsistent "ith this
novel o!servation, &*->D9 is involved in cell $roliferation (favoured
category) and is on a core region for du$lication . a focal $oint for large
regions of du$lication in hu#an geno#e.
20t is evident that there has !een stri4ing turnover in gene content !et"een
hu#ans and chi#$an%ees, and so#e of these changes #ay have resulted
fro# e7ce$tional selection $ressures,2 e7$lains Dr 'eorge 8erry fro# +ri%ona
State ?niversity and *righa# and 3o#en5s )os$ital, another leading author
of the study. 2@or e7a#$le, a sur$risingly high nu#!er of genes involved in
the in/a##atory res$onse . +8<=>, +8<=A, -+RD>8, 0=>@;, 0=>@8 . are
co#$letely deleted fro# chi#$ geno#e. 0n hu#ans, +8<=> is involved in
resistance to the $arasite that causes slee$ing sic4ness, "hile 0=>@; and
-+RD>8 $lay a role in regulating in/a##ation: therefore, there #ust !e
dierent regulations of these $rocesses in chi#$an%ees.
23e already 4no" that inactivation of an i##une syste# gene fro# the
hu#an geno#e is !eing $ositively selected: no" "e have an e7a#$le of
si#ilar conse6uences in the chi#$an%ee.2
-N1s in hu#ans and chi#$an%ees often occur in e6uivalent geno#ic
locations: #ost lie in regions of the geno#es, called seg#ental du$lications,
that are $articularly 5fragile5. )o"ever, one in four of the 9BB -NDs that the
tea# found do not overla$ "ith -N1s "ithin either s$ecies . suggesting that
they are variants that are 5(7ed5 in each s$ecies and #ight #ar4 signi(cant
dierences !et"een hu#an and chi#$an%ee geno#es.
DNA Sampes and ana%sis
&he $roCect used DN+ sa#$les fro# 90 chi#$an%ees (2D fro# 3 +frica, one
fro# , +frica): the chi#$an%ee reference "as $roduced using DN+ fro#
-lint, the chi#$an%ee "hose DN+ "as used for the geno#e se6uence.
)u#an DN+ sa#$les "ere o!tained fro# follo"ing $artici$ants: ten Eoru!a
(0!adan, Nigeria), ten *ia4a rainforest hunter.gatherers (-entral +frican
Re$u!lic) and ten F!uti rainforest hunter.gatherers (De#ocratic Re$u!lic of
-ongo). &he hu#an reference is a ,uro$ean.+#erican #ale fro# the
)a$Fa$ 8roCect (N+>08B2).
-N1s and -NDs "ere detected using a "hole.geno#e tile$ath of DN+ clones
s$anning the hu#an geno#e used $reviously to #a$ hu#an -N1s: this
$latfor# can reveal structural variants greater than around >0,000 !ase.
$airs in si%e.
&his "or4 "as funded !y the 3ellco#e &rust, the =S* =ea4ey @oundation, the
3enner.'ren @oundation for +nthro$ological Research, the National 0nstitutes
of )ealth, &he ?niversity of =ouisiana at =afayette.Ne" 0!eria Research
-enter and the )o"ard )ughes Fedical 0nstitute.
&he authors than4 the )u#an 'eno#e Diversity 8roCect, the -oriell 0nstitute
for Fedical Research, the 0ntegrated 8ri#ate *io#aterials and 0nfor#ation
Resource, Ne" 0!eria Research -enter, and the 8ri#ate @oundation of
+ri%ona for sa#$les.
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