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Humans and Mice Together at Last

Scientists compare mouse chromosome 16 to the human


Edward R. Winstead
May 31, 2002
The frst head-to-head comparison of draft hman and mose
!enome se"ences can #e smmari$ed in one word%forteen.
&orteen !enes on mose chromosome 1' are not fond in
hmans. ()) the others%more than *00 mose !enes%ha+e
conterparts in the hman !enome, most of which are !roped
to!ether and in the same order as in the mose !enome.
,n short, the hman and mose !enomes are remar-a#)y simi)ar
not on)y in the strctre of their chromosomes #t a)so at the
)e+e) of ./( se"ence. 0cientists ha+e reported simi)arities
#etween the two species for decades #t ne+er with the detai)
that is possi#)e #y )inin! p two !enome se"ences.
The new fndin!s, #y researchers at 1e)era 2enomics in
Roc-+i))e, Mary)and, pro+ide the stron!est e+idence yet that the
mose is a sef) mode) for nderstandin! hman hea)th and
disease. ()most any !ene in hmans is !oin! to #e present in
mice and +ice +ersa, the team conc)des.
3The stdy confrms what we mose !eneticists ha+e a)) hoped
wo)d #e tre,3 says /ea) 2. 1ope)and of the Mose 1ancer
2enetics 4ro!ram at the /ationa) 1ancer ,nstitte in &rederic-,
Mary)and. 3(nd that is important #ecase we5re sin! the
mose as a mode) or!anism to stdy fnctions of !enes in the
hman !enome.3
The 1e)era team compared mose chromosome 1' with its
correspondin! re!ions of the hman !enome. Mch of this
chromosome corresponds to hman chromosome 21, which
contains !enes in+o)+ed in .own syndrome and simi)ar
disorders. The draft of chromosome 21 is a)so amon! the most
refned p#)ic)y a+ai)a#)e hman chromosome se"ences.
The hman conterpart !enes reside in !enomic #)oc-s on si6
chromosomes 73, 8, 12, 1', 21, and 229. :f the !enes in these
#)oc-s, on)y twenty-one ha+e no o#+ios conterparts in mice.
The fndin!s, which appear in today5s isse of Science, ha+e a
co)orf) if somewhat nsa) p#)ication history. ( paper was
s#mitted to Science some months a!o, recei+ed e6ce))ent
re+iews, #t was then withdrawn #y 1e)era o;cia)s. E+enta))y,
the company chan!ed its mind.
3We are <st !)ad to see the paper p#)ished,3 says Mar- ..
(dams, who heads the !enome se"encin! pro!rams at 1e)era.
The se"ence data on mose chromosome 1' ha+e #een
deposited in the p#)ic data#ase ca))ed 2enBan-. The rest of the
mose !enome is a+ai)a#)e to researchers who ha+e a
s#scription to the company5s data#ase. 1e)era5s draft mose
se"ence was comp)eted a year a!o.
,n the ei!hties, researchers estimated that the hman and
mose !enomes consist of a#ot 200 !enomic #)oc-s that are
rearran!ed #etween the species #t contain simi)ar
comp)ements of !enes. The new stdy confrms this notion #t
a)so shows that sma)) stretches of ./( within these #)oc-s are
stri-in!)y simi)ar.
The 1e)era team, )ed #y Richard =. Mra), identifed 11,822 short
se!ments of mose ./( that correspond to <st one re!ion of
the hman !enome. The order and orientation of ./( in these
se!ments is near)y identica) in #oth !enomes for >> percent of
the se!ments. The se!ments are a#ot 200 #ase pairs )on! and
are ca))ed 5syntenic anchors.5
3The anchor concept is fair)y new,3 says Mra). 3The acta)
distri#tion of short hi!h)y-simi)ar ./( matches in the !enome
has not #een !enera))y -nown.3
Mra)5s team fond these short se!ments thro!hot the
!enome? more than @0 percent occrred in re!ions that )ac-
!enes. The +ast ma<ority of se!ments in re!ions otside !enes
ha+e no -nown fnctions.
Aa+in! a third mamma)ian !enome se"ence wo)d he)p
researchers f!re ot what these se"ences are doin!. ./(
se"ences that ha+e #een conser+ed drin! e+o)tion in di+erse
species are )i-e)y to ha+e simi)ar fnctiona) ro)es. Researchers
can test the fnctions of these se"ences in mice #y -noc-in!
them ot, for e6amp)e.
.etai) of f!re showin! pairs of ortho)o!os !enes identifed in
the stdy. Biew f))
1e)era has done pre)iminary se"encin! of the cow, pi!,
chic-en, and do!? the chic-en is on a )ist of species that may #e
se"enced #y the p#)ic)y fnded Aman 2enome 4ro<ect. The
rat is #ein! se"enced, #t it is pro#a#)y too c)ose)y re)ated to
the mose to #e sef) in this comparison.
3/othin! in this stdy was sin!)ar)y srprisin!,3 says Mra).
3The important point is that there are now comp)ete drafts of
the mose and hman !enomes, and they do a )ot to inform or
nderstandin! of #oth as we)) as other mamma)ian !enomes.3
(nother fndin! is that the mose !enome is ten percent sma))er
than the hman !enome #ecase it has fewer repetiti+e
se"ences. The si$e diDerence is consistent thro!hot the
mose !enome, not <st in certain re!ions. (!ain, ear)ier stdies
ha+e s!!ested that this was the case #t there has #een no
proof nti) now.
3There5s a )ot of data ot there to s!!est this de!ree of
simi)arity, #t this is the frst time anyone has #een a#)e to
compare a who)e-!enome assem#)y of two mamma)ian
species,3 says 1ope)and, who co-athored an accompanyin!
commentary in Science. 3Eo co)dn5t ha+e -nown this res)t
withot doin! the stdy.3
,f there are +ery few mose-specifc and hman-specifc !enes,
why are the species so diDerentF 3Gnfortnate)y, it is not
possi#)e to answer that "estion now,3 says (dams. The answer,
he adds, wi)) )i-e)y in+o)+e fnctiona) diDerences in re)ated
!enes, in how they are re!)ated, and in their protein strctres.
The 1e)era mose se"ence inc)des ./( from three mose
strains, and the p#)ic)y fnded mose !enome pro<ect is
se"encin! a forth strain. ,t is on)y a matter of time #efore
researchers can rotine)y )oo- at !enetic +ariation within !enes
to nderstand how diDerences )i-e sin!)e nc)eotide
po)ymorphisms aDect the hea)th of mice.
Becase the mose is so critica) in research, the 1e)era team
has fond e"a) or !reater interest in the mose !enome
compared to the hman !enome. 3E+en researchers who are not
mose !eneticists wi)) fnd tremendos +a)e from e6aminin!
the se"ence,3 says (dams.