Being Well Born Part 4

The inheritance of various other conditions in man follows more or less accurately the same course as color-blindness. Among these may be mentioned: _hemophilia_, a serious condition in which the blood will not clot properly, thus rendering the affected individual constantly liable to severe or fatal hemorrhage; near-sightedness (_myopia_) in some cases; a degenerative disease of the spinal cord known as _multiple sclerosis_; progressive atrophy of the optic nerve (_neuritis optica_); Gower's _muscular atrophy_; some forms of _night-blindness_; in some cases _ichthyosis_, a peculiar scaly condition of the skin. In one of my own tabulations of a case of inheritance of "webbed" digits or _syndactyly_, a condition in which two or more fingers or toes are more or less united, a s.e.x-linked inheritance is clearly indicated (Fig. 15), although from the pedigrees recorded by other investigators this condition usually appears in some of both the sons and daughters of an affected individual.

[Ill.u.s.tration: FIG. 15

Chart showing the inheritance of a case of syndactyly after the manner of a s.e.x-linked character. The affected individuals are represented in black; squares indicate males, circles females. The condition is seen to be inherited by males through unaffected females.]

=The Occurrence of s.e.x-Linkage in Lower Forms Renders Experiments Possible.--=The course followed by such characters in man can be inferred only from the pedigrees we can obtain from family histories. Fortunately, however, such s.e.x-linkage also occurs in lower animals and we are able therefore to verify and extend our observations by direct experiments in breeding. Several s.e.x-linked characters have been found to exist in a small fruit-fly known as _Drosophila_. Extensive breeding experiments with this fly by Professor T. H. Morgan and his pupils have borne out remarkably the interpretation that the characters in question are really linked with a s.e.x-determining factor.

CHAPTER III

MENDELISM

=New Discoveries in the Field of Heredity.--=Writing in 1899, one of America's well-known zoologists a.s.serts that, "It is easier to weigh an invisible planet than to measure the force of heredity in a single grain of corn." And yet only two or three years later we find another prominent naturalist saying regarding heredity that, "The experiments which led to this advance in knowledge are worthy to rank with those that laid the foundation of the atomic laws of chemistry." Again, "The breeding pen is to us what the test-tube is to the chemist--an instrument whereby we examine the nature of our organisms and determine empirically their genetic properties." Here is a decided contrast of statement and yet both were justifiable at the time of utterance. For even at the writing of the first statement the investigations were in progress which, together with the rediscovery of certain older work, were to transfer our knowledge of heredity from the realm of speculation to that of experiment and disclose certain definite principles of genetic transmission.

Through a knowledge of these principles in fact, the shifting of certain characters is reducible to a series of definitely predictable proportions and the skilled breeder may proceed to the building up of new and permanent combinations of desirable characters according to mathematical ratios and, what is of equal importance, he can secure the elimination of undesirable qualities. While there are many limitations in the application of these principles and while new facts and modifications are constantly being discovered concerning them, nevertheless they represent the first approximations to definite laws of hereditary transmission that we have ever been able to make, and the practical fact confronts us that whatever our theoretical interpretations may be, the principles are so definite that through their application important improvements of crops and domesticated animals have already actually been secured and one may confidently expect still others to follow.

=Mendel.--=The principles involved are called the Mendelian principles after their discoverer, Gregor Johann Mendel, abbot of a monastery at Brunn, Austria. After eight years of patient experimenting in his cloister garden with plants, chiefly edible peas, he published his results and conclusions in 1866, in the _Proceedings of the Natural History Society of Brunn_. While known to a few botanists of that day, the full importance of the contribution was not recognized, and in the excitement of the post-Darwinian controversy, the facts were lost sight of and ultimately forgotten.

=Rediscovery of Mendelian Principles.--=In 1900 three men, Correns, De Vries and Tschermak, working independently--in different countries, in fact--rediscovered the principles and called attention anew to the long-forgotten work of Mendel which they had come upon in looking over the older literature on plant breeding. These investigators added other examples from their own experiments. Since their rediscovery the principles have been confirmed in essential features and extended by numerous experimentalists with regard to a wide range of hereditary characters in both animals and plants.

=Independence of Inheritable Characters.--=It has been found that many truly heritable characteristics or traits of an individual, whether plant or animal, are comparatively independent of one another and may be inherited independently. Where there are contrasted characters in father and mother, such as white plumage and black plumage in fowls, smooth coat and wrinkled coat in seed, horns and hornlessness in cattle, long fur and short fur in rabbits, beard and beardlessness in wheat, albino condition and normal condition, etc., there is obviously a bringing together of the determiners of the two traits in the resulting offspring. In the third generation, however, in the progeny of these offspring, the two distinct characters may be set apart again, thus showing that in the second generation while perhaps one only was visible, the factors which determine both were nevertheless present, and moreover, they were present in a separable condition.

=Ill.u.s.tration of Mendelism in the Andalusian Fowl.--=Let us take as a simple example the case of the Andalusian fowl. Although it is not a case established by Mendel it ill.u.s.trates certain of the essential conditions underlying Mendelism in a more obvious way than the cases worked out by Mendel himself. The so-called blue Andalusian fowl results from a cross of a color variety of the fowl which is black with one which is white with black-splashed feathers. The result is the same irrespective of which parent is black. When bred with their like, whether from the same parents or different parents, these blue fowls produce three kinds of progeny, approximately one-fourth of which are black like the one grandparent, one-fourth white like the other grandparent, and the remaining half, blue like the parents (Fig. 16). Moreover, the black fowls obtained in this way will, when interbred, produce only black offspring and the same is true of the white fowls. To all appearances as far as color is concerned they are of as pure type as the original grandparents. With the blue fowls, however, the case is different, for when bred together they will produce the same three kinds of progeny that their parents produced and in the same proportions. Again the white and the black are true to type but the blue will always yield the three cla.s.ses of offspring and this through generation after generation.

[Ill.u.s.tration: FIG. 16

Diagram showing the scheme of inheritance in the blue Andalusian fowl.]

These facts may be ill.u.s.trated graphically as follows where the word "black" indicates the original black parent, "white" the original white (black splashed) parent and "blue" the hybrid offspring.

Parental Generation (P) Black White Black White First Filial Generation (F_{1}) Blue Blue +------------------------------------------+ Second Filial Black Blue White Generation (F_{2}) (25%) (50%) (25%) +-------------------------+ Third Filial Black Black Blue White White Generation (F_{3}) (25%) (50%) (25%) +-------------+ Fourth Filial Black Black Black Blue White White White Generation (F_{4}) (25%) (50%) (25%)

=The Cause of the Mendelian Ratio.--=Concerning the cause of this peculiar ratio of inheritance in crossed forms Mendel suggested a simple explanation. Animals or plants that can be cross-bred, obviously must be forms that produce a new individual from the union of two germ-cells, one of which is provided by each parent. Mendel's idea was that there must be some process of segregation going on in the developing germ-cells of each hybrid whereby the factors for the two qualities are set apart in different cells with the result that half of the germ-cells of a given individual will contain the determiner of one character and half, the determiner of the other. That is, a given germ-cell carries a factor for one or the other of the two alternate characters but not the factors for both. In a plant, for example, in the male line, half of the pollen grains would bear germ-cells carrying the determiner of one character and half, that of the other. Similarly, in the female line, half of the ovules would contain the determiner of the one character and half, that of the other.

Likewise in animals as regards such pairs of characters there would be two cla.s.ses of germ-cells in the male and two in the female. In the case of the blue Andalusian fowls under discussion this would mean that half of the mature germ-cells of the male carry the black-producing factor, and half carry the white-producing factor, and the same is true of the germ-cells of the female. Thus when two such crossed forms are mated, there are, by the laws of chance, four possible combinations, namely: (1) white-determining sperm-cells and white-determining ovum; (2) white-determining sperm-cells and black-determining ovum; (3) black-determining sperm-cells and white-determining ovum; and (4) black-determining sperm-cells and black-determining ovum. Manifestly, the first combination can only give white offspring; the second, white and black, gives blue (by such a cross the original blues were established); likewise, the third, black and white, gives blue; and the fourth combination can only give black offspring. This matter may be graphically represented by the following formulae in which B indicates the determiner of Black in the germ-cell and W the determiner of White: [male] signifies male; [female] female.

IN THE ORIGINAL PARENTS

W B = WB = Blue

IN THE HYBRIDS

[male] [female]

germ- germ- cells cells [male] [female]

W----W W W = WW = White / W B = WB = Blue / or B W = BW = Blue B----B B B = BB = Black

Thus of the four possible combinations one only can produce white fowls, two (WB or BW) can produce blue fowls, and one black fowls. That is, the ratio is 1:2:1 or the 25, 50 and 25 per cent., respectively, of our diagram. The black fowls or the white fowls will breed true in subsequent generations when mated with those of their own color because the determiner of the alternative character has been permanently eliminated from their germ-plasm; but the blue fowls will always yield three types of offspring because they still possess the two cla.s.ses of germ-cells.

=Verification of the Hypothesis.--=The hypothesis that germ-cells of crossed forms are of two cla.s.ses with respect to a given pair of Mendelian characters is further substantiated by the following facts. If in the case of the fowls under discussion one of the blue fowls is mated with an individual of the white variety, half of the progeny will be blue and half white. For the hybrid has two kinds of germ-cells, black producing, which we have designated by the letter B, and white producing (or W) in equal number while the white parent has only one kind, white producing. It is obvious that if half the germ-cells of the hybrid form are of the type B then half the progeny will be of the BW type, which is blue, and the other half will be of the WW type, which is white. In the same way if we mate a hybrid and a black fowl, half of the progeny will be black and half will be blue, that is, there could only be WB and BB types.

The fact must not be lost sight of that since the pairings are wholly determined by the laws of chance the proportions are likely to be only approximate. It is obvious that the greater the number of individuals, the nearer the results will approach the expected ratio.

DOMINANT AND RECESSIVE

=One Character May Mask the Other.--=In a large number of cases, however, the actual condition of affairs is not so evident as in the Andalusian fowl, for instead of being intermediate or different in appearance, the generation produced by crossing resembles one parent to the exclusion of the other. Such an overshadowing is spoken of as _dominance_, and the two characters are termed _dominant_ and _recessive_. Thus when brown ring-doves and white ring-doves are mated the progeny are all brown, or if wild gray mice are mated to white mice the progeny are all gray. So black is dominant to white in rose-comb bantams; brown eyes to blue eyes in man; beardlessness to beard in wheat, and likewise rough chaff to smooth, and thick stem to thin; tallness to dwarfness in various plants; normal condition to the peculiar waltzing condition in the j.a.panese waltzing mouse. Numerous other cases might be cited but these are sufficient to ill.u.s.trate the condition.

=Segregation in the Next Generation.--=But now the question arises, what do such crosses as show dominance transmit to the next generation?

Experiments show regarding any given pair of these alternate characters that they are set apart again in the succeeding generation, returning in a definite percentage to the respective grandparental types.

[Ill.u.s.tration: FIG. 17

Diagram showing the scheme of inheritance in guinea-pigs when black and albino forms are crossed.]

=Dominance Ill.u.s.trated in Guinea-Pigs.--=In guinea-pigs for example (Fig.

17), when an individual (either male or female) of a black variety, is crossed with one of a white variety, the F_{1} generation are all black like the black parent. When these are interbred or bred with other blacks which have had one black and one white parent, only two visible types of progeny appear, viz., black and white, and these approximately in the ratio of three to one.

a.n.a.lysis by further breeding shows, however, that there are in reality three types, but since dominance is complete the pure extracted dominant and the mixed dominant-and-recessive type are indistinguishable to our eye. That is, while the blacks are three times as numerous as the whites, two out of every three of these blacks are really hybrid and correspond to the blue fowls of our former example.

The condition is readily comprehended when expressed diagrammatically thus:

Generation P Black White Black White Generation F_{1} Black (White) Black (White) +-------------------------------------+ Generation F_{2} 1 Black 2 Black (White) 1 White

In other words, the germ-cells of the one original parent (Gen. P) would contain only determiners for black and that of the other parent would contain only determiners for white. The condition of the individuals produced by the cross would be represented by the formula B(W). But these determiners segregate in the germ-cells of the crossed form, whether it be male or female, into B and W. Hence half the spermatozoa of the male hybrid (generation F_{1}) would carry the B determiners and half the W determiners. The same is true of the mature ova of the female hybrid.

Consequently, in mating there are always four equally possible combinations, viz., BB, B(W), (W)B, and WW. Since B is always dominant three out of the four matings would yield black individuals, or in other words the ratio would be 3:1.

The pure blacks when mated together will breed true in subsequent generations, likewise the whites, but the blacks carrying white as a recessive will yield when interbred the same ratio of whites and black as did their hybrid parents (Fig. 17, p. 75).

=Terminology.--=As work in the study of Mendelian inheritance has progressed and expanded the need of a more precise terminology has become evident and such is gradually being established. Thus Professor Bateson has coined the term "allelomorph" (Gk. _one another_, and _form_) to express more exactly what we have thus far been calling a pair of alternate or opposite characters. In the blue Andalusian fowls discussed, the white condition in the one parent is the allelomorph of the black condition in the other. The term generally means one of the pair of Mendelian characters themselves as expressed in the individual plants or animals but when the germinal basis of such phenomena is under discussion, it is sometimes used to refer to the determiners of such characters. And by determiner is meant simply the condition which is necessary in the germ to bring about the occurrence of a definite character. For example, when we are studying a cross between a red flower and a white flower with reference to the color factors, the difference between the two plants may lie in the fact that one produces a red coloring matter and the other does not. That is, the determiner for red is absent from the white variety. What the exact relation of color production is to the parts of the germ-cell we do not know. It could be the function of a single definite body or the resultant of several cooperating bodies. The latter is far more likely to be the case. We may suppose that a group of cooperating substances function to produce red in the red flower but that in the white flowers one of these bodies is absent or fails to perform its red-producing function.

It is customary where practicable to refer to the determiner of a character by the initial letter of the name of the character. The letter when written as a capital indicates the determiner but when written as a small letter the absence of the determiner. Thus R may be taken to represent the determiner for red coloring matter and r its absence. It is convenient also to have a brief symbol to denote a given generation and for this purpose Bateson has introduced the symbol F_{1} for the hybrid progeny of the first cross, the initial letter of the word "filial." F_{2} would indicate the next generation, F_{3} the third and so on. Likewise P denotes the original parent generation.

=The Theory of Presence and Absence.--=Many, if not all, allelomorphs consist of the presence and absence respectively of a given determiner. In such cases the character represented by the presence of the determiner is dominant over the character represented by the absence of a determiner.

Thus in the crosses from the wild gray mice and albino mice the progeny are all gray mice since one parent had the determiner or group of determiners for grayness and the hybrid offspring must also possess it.

Likewise the presence of black in black guinea-pigs is dominant to its absence in albino guinea-pigs and the resulting progeny are all black.

However, it has already been mentioned that beardlessness in wheat is dominant to beard and that the absence of horns in cattle is dominant to their presence, that is, the progeny of hornless by horned cattle are without horns except for occasional traces of imperfect horns. Facts like these would seem at first sight to contradict the a.s.sertion just made that presence is dominant to absence, but it is fairly well established that in such cases one is not dealing with true absences but with suppressions.

The polled breeds of cattle, for example, are hornless not because of the absence of determiners for horns but because of the presence of an additional inhibiting factor which prevents these determiners from functioning. The horned breeds are without this inhibitor. When horned and hornless individuals are crossed the presence of the inhibitor from one line of ancestry is sufficient to suppress the development of horns in the progeny. A similar explanation would, of course, apply to beardlessness in wheat.

In writing double-lettered formulae to denote the determiners of characters in hybrids the condition is represented merely by the capital and small letter. Thus Rr indicates that red is dominant to its absence.