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From Gene to Phene* T HE JOURNAL OF i NVEST IGATIV E D EHMATO LOGY Vol. 60, N o.6 Copyri ght © 1973 by The Wi lli ams & Wdkms Co. Printed in U. S.A. FROM GENE TO PHENE* JAN H. PORTER, M.D. INTRODUCTION acid. The normal (:J-c hain is made up of 146 a m ino acids a nd as each a mino acid is coded for b y a trio Chromosomes are t he o rgans o f heredity. T hey of DNA bases, the gene determining t he c hain carry t he ge nes, the units of heredity . must contain 438 bases. Since the mutation caus­ Chromosomes transmit groups o f ge nes fr om one in vo lves the 6th trip let in ge neration to the next, and ge nes mediate the_ ing t he sickl e cell allele 7th, a nd 18th b ases­ inheri ted m essage by directing t he synt hesiS of the sequence - the 16th, 1 and since adenine has bee n changed for thymine polypept ides. We s hould, t herefore, be a bl ~ to relate a gi ven characteristic (phenotype) of an on one o f the t wo complementary strands of the DNA, it must be t he 17th base t hat is replaced by individual to a s peci fic ge ne (genotype) . Indeed, a e findings in sickle cell full account of a g iven characteristic s hould start another. Alm ost all th disease can be ex plained by the phys ical proper­ with the type and sequence of t hose d eoxy rib o n~ ­ ties of reduced hemoglobin S, particul arly by i t cl eic ( DNA) bases which m ake up t he ge ne m low solu bili ty at low oxygen tension . This may question, then correlate t his wi th the type a nd resul t fr om an alteration in a s mall region on the sequence of t hose amino acids in ~ h e e ~ zym~. or ule by t he substit ution protein it controls, proceed to e lu cidate Its eff ect surface of the p rotein molec on the a ppropriate bioc hemical pathway , and of the hydrophobic v aline for a hydrophilic glu­ relate this to the phenotype ( Fi g. 1). Finall y, we ta mic acid residue (Fig. 2) . should be able to assign a g iven ge ne to a s pecifi c There a re t hree categories in which changes in genetic materi al can lead to cl inical disorders: (1) chromosome. DNA has two c haracteristics: it is remarkably m ajor mutant ge nes, (2) polyge nic d isorders, and stable a nd it replicates identically. If t his we re not (3) c hromoso mal abnormali ties. so the o rderly development o f an individual and t h ~ stability of the species wo uld not be possible. MAJOR M UTANT GENES If on the other hand, we were a ll identical, the McKusick (1971) lists 1,896 clinical condit ions. have arisen q~estio n of in heritance might never varying g reatly in manifestation and severity. since the diffe rences provide t he o bservational caused b y a s ingle ge ne w ith an abnormal effect. refully we uni ts of genetics. Indeed, t he more ca Some a re present at birth or appear short!) individu­ examine o urselves the more our unique afterwards; others may not become apparent u ntil ali ty b ecomes appa rent. One of the causes of middle o r l ate li fe. Some a re inevitabl y progres­ individual variation is mutation which can b e sive a nd fatal; others cause only minor disability. vari ation. A defined as the inception of heri table Any o rgan or tissue can b e affected, and chara - a s ingle ge ne mutation co nsists of a c hange in teristic a nd specific pathological changes are often one code nucleotide, whi ch leads to a c hange in demonstrable d . Consequently, the a ltered ge ne w ill specify wor If one ge ne o f a homologo us pair becomes id e in whi ch one a mino acid is replaced a polypept mutated to cause a n abnormali ty, we refer to the of diffe ~ ­ by a nother. Such changes are t he start co ndition as autosomal dominant ; if both gen es of ences between all eles. After a ge ne has changed, It a homologous pair must be mutated to cause an d in its new state by replication. Thus, is p reserve abnormali ty, we call it a utosomal recessive. medical ge neti cs is t he study o f those differences t hat result in disease. The diffe rences in the ge notype whi ch, under certain circumstances, Dominant conditions lead to disease are merely a selected sample of all In an autosomal dominant condition , t he pa­ the differences that make each one of us unique. tient is a heterozygo te (Fig. 3): only one ge ne of a It is not yet feasible to define t he abnorma li ty in homologous pair resul ts in the abnormal effect. any ge netic co ndition by direct examination of the Homozygotes are rarely seen because most of the sequence of the DNA b ases of the a ppropri ate genes that give rise to dominant conditions with ge ne. But we can d educe the abnorma li ty in the an abnormal effect are in frequent (F ig. 4). M ore­ DNA by isolating t he a bnormal protein and deter­ over, such patients are probably even m ore se­ mining t he st ructural defect. In sickl e cell di sease, ve rely affected than heterozygotes and so d ie in for example, the various clinical and pathologic fetal or {!a rl y li fe . Nine hundred and fo rty-three features are due to the synthesis o f a n abn ormal dominant condit ions a re listed b y McKusick hemoglobin which differs fr om n ormal in only a (1971) (Table I). sin gle a mino ac id , i.e., at the 6th p os ition in t ~ e Little is kn ow n about t he nature of the b a ic (:J- polypeptide chain, valine replaces glu tamic defects in dominant condi tions. One does not find s uch elegant ident ification of the molecul ar pa­ • From the B irth D efects In stitute, New Y ork State Department o f H ealth, _Albany, and the D epartment o f t hology as have .been found in , fo r example, s ickle Pedi atrics, Albany Medtcal Coll ege, Albany, New York. cell disease. On the other ha nd , biochemical 360 GENE TO PHENE 361 advances have brought us a clearer understanding errors of metabolism are recessive and the defect of recessive disorders. is usuall y a deficiency in the activity of a specific enzyme. In heterozygotes, the e nzyme activity is R ecessive Conditions intermediate, a degree of deficiency that is seldom In an autosomal recessive condition, t he patient severe enough to impair metabolic function. is a homozygote (Fig. 5): both genes of a homolo­ Sometimes t he toxic effect of abnormall y high gou s pair have the abnormal effect. Although concentrations of normal metabolites causes t he heterozygotes are relatively co mmon, t hey are injury, as in phenylketonuria (Fig. 8). us ually not seen because under ordinary circum­ stances t hey are quite norma l (Fig. 6). Seven X -linked Conditions hundred and eighty-three recessive co nditions are The rules of dominance and recessivity also listed by McKusick (1971) (Table I). apply to sex-linked (or better X-linked) inheri­ We examine a trait in many different ways, i.e. tance (Fig: 9) . But since t he homologous genes clinically, biochemically, immunologically, and so ex ist only in women who have two X chromo­ on. It is, therefore, necessary to specifY how we somes, onl y in t hem do X-linked genes have a look at t h e t rait before we use t he te rms " domi­ dominant or r ecessive effect lik e a utosomal genes. nant" and "recessive." For example, sick le ce ll T he problem of dominance or recessivity does not disease is a recessive co ndition but the s ickling arise in men, who have only one X c hromosome phenomenon (seen when red cell s are exposed to and therefore lack paired X-borne genes. If a man sodium b isul fite) is dominant (Fig. 7). All in born carries a gene with an abnormal effect in hi s X-chromosome, he is abnorm al; if he carries a ge ne wit h a normal effect in his X-chromosome, he is normal. Because boys do not receive their fathers' X-chromosome, the characteristic fi nding AMINO ACIDS + in X-linkage is t he absence of male-to-male trans­ s- RNA mission (Fig. 9). One ~ hundred and fifty X-linked m -RNA co nditions are listed by McKusick (1971) (Table I). DISORDERS OF MULTIFACTORIAL ETIOLOGY j In many common diseases that are clearly not inherited in a simple mendeli an manner, there is obviously an underl yi ng ge netically determined predisposition, whi ch is reflected in a rel ative ly hi gher conco GROWING CHAI~S rd ance rate among monozygotic than CO MPLETED among dizygotic twins and a higher frequency ~- POLYPEPTIDE CHAIN among relatives of patients t ha n in the general PROTEIN population.
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