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DNA Chunks, Chimps AndHumans: Marks Of Dierences

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

See Aso:

Heath ! Medicine

u#an *iology

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volutionary *iology

#ossis ! $uins

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u#an volution$eference

-o#$utational geno#ics

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u#an geno#e

-o##on -hi#$an%ee

&he tea# sho" that $articular ty$es of genes such as those involved in thein/a##atory res$onse and in control of cell $roliferation are #ore

co##only involved in gain or loss. &hey also $rovide ne" evidence for agene that has !een associated "ith susce$ti!ility to infection !y 1.

&his is the rst study of this scale, co#$aring directly the geno#es of #anyhu#ans and chi#$an%ees, says Dr Richard Redon, fro# the 3ellco#e &rustSanger nstitute, a leading author of the study. *y loo4ing at only one5reference5 seuence for hu#an or chi#$an%ee, as has !een done $reviously,it is not $ossi!le to tell "hich dierences occur only a#ong individualchi#$an%ees or hu#ans and "hich are dierences !et"een the t"o s$ecies.

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&his is our rst vie" of those t"o i#$ortant legacies of evolution.

Rather than e7a#ining singleletter dierences in the geno#es (socalledSNs), the researchers loo4ed at co$y nu#!er variation (-N1) the gain orloss of regions of DN+. -N1s can aect #any genes at once and theirsignicance has only !een fully a$$reciated "ithin the last t"o years. &he

tea# loo4ed at geno#es of 90 chi#$an%ees and 90 hu#ans: a directco#$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 asco$y nu#!er dierences (-NDs) !et"een the t"o s$ecies. -NDs are li4ely toinclude genes that have in/uenced evolution of each s$ecies since hu#ansand chi#$an%ees diverged so#e si7 #illion years ago.

*roadly, the t"o geno#es have si#ilar $atterns and levels of -N1s around;080 in each individual of "hich nearly half occur in the sa#e regions ofthe t"o s$ecies5 geno#es, continues Dr Redon. *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., for "hich lo"er co$y nu#!ersin hu#ans have !een associated "ith increased susce$ti!ility to 1infection. Re#ar4a!ly, the study of 60 hu#an and chi#$an%ee geno#esfound no evidence for 7ed -NDs !et"een hu#an and chi#$ and no "ithinchi#$ -N1. Rather, they found that a near!y gene called &*->D9 "asreduced in nu#!er in chi#$an%ee co#$ared to hu#an: ty$ically, there "ereeight co$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 $roliferation (favouredcategory) and is on a core region for du$lication a focal $oint for largeregions of du$lication in hu#an geno#e.

t is evident that there has !een stri4ing turnover in gene content !et"eenhu#ans and chi#$an%ees, and so#e of these changes #ay have resultedfro# e7ce$tional selection $ressures, e7$lains Dr 'eorge erry fro# +ri%onaState ?niversity and *righa# and 3o#en5s os$ital, another leading authorof the study. @or e7a#$le, a sur$risingly high nu#!er of genes involved inthe in/a##atory res$onse +, +8, =>@;, =>@8 areco#$letely deleted fro# chi#$ geno#e. n hu#ans, + is involved inresistance to the $arasite that causes slee$ing sic4ness, "hile =>@; and

-+RD>8 $lay a role in regulating in/a##ation: therefore, there #ust !edierent regulations of these $rocesses in chi#$an%ees.

3e already 4no" that inactivation of an i##une syste# gene fro# thehu#an geno#e is !eing $ositively selected: no" "e have an e7a#$le ofsi#ilar conseuences in the chi#$an%ee.

-N1s in hu#ans and chi#$an%ees often occur in euivalent geno#iclocations: #ost lie in regions of the geno#es, called seg#ental du$lications,

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that are $articularly 5fragile5. o"ever, one in four of the 9BB -NDs that thetea# found do not overla$ "ith -N1s "ithin either s$ecies suggesting thatthey are variants that are 57ed5 in each s$ecies and #ight #ar4 signicantdierences !et"een hu#an and chi#$an%ee geno#es.

DNA Sampes and ana%sis

&he $roCect used DN+ sa#$les fro# 90 chi#$an%ees (2 fro# 3 +frica, onefro# +frica): the chi#$an%ee reference "as $roduced using DN+ fro#-lint, the chi#$an%ee "hose DN+ "as used for the geno#e seuence.

u#an DN+ sa#$les "ere o!tained fro# follo"ing $artici$ants: ten Eoru!a(!adan, Nigeria), ten *ia4a rainforest huntergatherers (-entral +fricanRe$u!lic) and ten F!uti rainforest huntergatherers (De#ocratic Re$u!lic of-ongo). &he hu#an reference is a uro$ean+#erican #ale fro# thea$Fa$ roCect (N+>08B2).

-N1s and -NDs "ere detected using a "holegeno#e tile$ath of DN+ cloness$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, the3enner'ren @oundation for +nthro$ological Research, the National nstitutesof ealth, &he ?niversity of =ouisiana at =afayetteNe" !eria Research-enter and the o"ard ughes Fedical nstitute.

&he authors than4 the u#an 'eno#e Diversity roCect, the -oriell nstitutefor Fedical Research, the ntegrated ri#ate *io#aterials and nfor#ationResource, Ne" !eria Research -enter, and the ri#ate @oundation of+ri%ona for sa#$les.

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&he a!ove story is re$rinted ("ith editorial ada$tations !y ScienceDailysta)fro# #aterials $rovided !y &ecome 'rust San(er )nstitute.

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