Daltonism and Genetics
Daltonism and Genetics
PAOLO ENRIQUES
Zstituto di Zoologia e Anatomia Comparata, Padova, Italy
Received August 9, 1922
Sex-linked characters in man are well known; they are all pathological
characters, so far as known; they are transmitted according to the same
laws as the sex-linked characters in the little fruit-fly (Drosophila) and
explained in the same manner by means of the sex chromosome.
I propose the name “diagynic heredity” for this kind of heredity, as
the sex-linked character is transmitted from male to male, not directly,
but through the unaffected females (e. g., hemophilia, daltonism).
I n the currant moth ( Abraxas grosszclariata) the character “lacticolor”
is transmitted from female to female, not directly, but through the
“unaffected” males. This “dia-andric heredity” is not known in man.
A third kind of sex-linked heredity is possible. We know two pedi-
grees of this kind (daltonism, hemophilia), and two new pedigrees are
referred to in this paper (hemophilia, cataract). No one has considered
this special kind of heredity or noticed its theoretical and practical
importance.
For the pedigree of daltonism (CUNIER),see PLATE 1913,p. 379. Dalton-
ism is usually diagynic; but in this pedigree 12 females are affected in 5
generations. The authors have not emphasized the circumstance that
all the females are affected. The males are all unaffected. The transmis-
sion is direct from the affected female to her daughters.
I n another pedigree of hemophilia (GRANDIDIER, see PLATE1913, p.
379), an affected mother has three affected daughters and no other chil-
dren; her parents, according to the reference, are unaffected.
I propose for this type of heredity the name of “hologynic heredity.”
“Holo-andric heredity” has not been recognized, heretofore, but in
the Jozcrrtd of Heredity for November 1921 RICHARDSCHOFIELD has
published a pedigree of webbed toes with 14 affected males in 4 genera-
tions (all the males) and not one female. SCHOFIELD does not recognize
in this pedigree a new form of heredity and thinks that this hereditary
trait is inherited as a secondary sex character. But why are all the males
affected?
GENETICS ’I: 583 N 1922
584 PAOLO ENRIQUES
m Q 9
FIGURE 1.-Pedigree chart of a family showing hemophilia in the female line,-hologynic
hemophilia.
I .i,-o-js t45
t40 t 50-40 t 6 8 tb
FIGURE 2.-Hologynic senile cataract. The numbers indicate the age that the individual, if
living, now has, or the age a t death. An oblique line from left to right indicates that the individ-
ual has not reached the age in which the cataract developed; from right to left that no informa-
tion is available as to whether the individual was affected or not; b indicates that the individual
died as a child.
HOLOGYNIC HEREDITY 585
this kind. The pedigree of cataract shown in figure 2, also can not be
reasonably explained on the ground of chance.
Thus, a new kind of heredity exists, sex-linked, but not diagynic or
dia-andric,-hologynic heredity. The features of this heredity are not
yet known, but its existence seems to me to be certain. Provisionally I
suppose that these features are very simple: (1) The daughters of an
affected mother are all affected; (2) The sons of an affected mother are all
unaffected and not conductors.
How can hologynic heredity be explained? The coexistence of diagynic
and hologynic heredity in the same species makes the explanation very
difficult. Nevertheless, I will make an attempt in this direction.
The diagynic heredity requires the existence of two kinds of spermato-
zoa, one of which possesses the X chromosome, the other not. Naturally,
it is possible that paired with the X chromosome there is a Y chromosome,
different from X, and destined to remain always in the male line. That is
really the case in some kinds of insects. If one should discover a hol-
andric heredity in the insects, its explanation would be very easy; the Y
chromosome, which remains in the male line, could well explain a sex-
linked character which remains always in the male line.
But we have to explain a hologynic, not a holandric, heredity. We
can imagine a scheme like that for the dia-andric heredity, with two
kinds of eggs and a W chromosome which remains always in the female
line. W can transmit the cataract or the hemophilia or the daltonism.
This explanation or a similar one is logically suggested by the ob-
served facts. It is necessary to suppose that something remains in the
female line and can not be transmitted by the male. Then an egg posses-
ses this thing or does not possess it, according to its sex. This would
require that the sex be determined already in the egg, independently
from the spermatozoon and fertilization.
I consider this almost a logical consequence of the facts. It is possible,
however, that, for example, the hologynic hemophilia is transmitted by
something that is in all the eggs of an affected female, independent of
sex, and that the male-determining spermatozoon destroys this thing.
But this mechanism is entirely different from the chromosomal mechan-
ism which explains the heredity of the diagynic hemophilia or of the not-
sex-linked dominant hemophilia. It seems too improbable that the same
character can be transmitted by two entirely different mechanisms; we can
suppose that in one family one chromosome transmits it, in another
family another chromosome, but the mechanism of the transmission must
HOLOGYNIC HEREDITY 587
be the same in all cases. Therefore, there should be two kinds of eggs,
and two kinds of spermatozoa, in order to explain the diagynic heredity.
This hypothesis requires a selective fertilization; the male-determining
egg must be fertilized by a male-determining spermatozoon and the
female-determining egg by a female-determining spermatozoon.
The following scheme will explain this type of heredity: Let F be
the chromosome which always remains in the female line; so that a
pair, Ff, in the female corresponds to a pair, ff, in the male; and let M
be the Y chromosome and m the X chromosome. Then a mating will
result in the following combinations, the impossible combinations being
written in parenthesis:
p1 Mmff mmFf
A
I I
Germ cells Mf or mf mF or mf
Fi Mmff or (MmFf) mmFf or (mmff)
The hologynic character is transmitted by F. This scheme allows
also for the possibility of a holandric character transmitted by M.
The diagynic character is transmitted by m; the scheme provides also
for a dia-andric transmission which can be made by f.
This scheme can also be stated in a simpler form as follows:
P1 m- mmF
Germcells m or - mF or m
Fi m or (mF-) mmF- or (mm-)
This is the simplest symbolic expression of sex-linked heredity in man
(diagynic and hologynic). But M is also necessary to explain the hol-
andric heredity, and this is permitted by the type of sex chromosomes
which was described in man by WIEYAN(1917).
If we consider sex-linked heredity in a general way, we are surprised
by the circumstance that in some insects the female is heterozygous
(e. g., in the Lepidoptera), while in all the others the male is heterozygous.
It seems that the heterozygous constitution of the male is the more general
condition in animals. Heterozygous females are observed only in the
Lepidoptera and in birds. This difference, even in the same class, is very
difficult to explain; we cannot understand why the chromosome pair XX
of the female and the single X chromosome of the male can be replaced
by an inverted condition. But if we take the hypothesis of an Mmff
group in the male and an mmFf group in the female as a primitive arrange-
ment, we can easily explain the reverse cases. It is possible that in some
species certain chromosomes have disappeared before reduction, in which
case the possibility of certain kinds of heredity has been lost.
C w ~ n c s l :N 1922
588 PAOLO ENRIQUES
DAVENPORT, C. B., 1911 Heredity in relation to eugenics.xi+298 pp. New York: Henry
Holt & Co.
PLATE,L., 1913 Vererbungslehre mit besonderer Berucksichtigung des Menschen, fur Studier-
ende, Artzte und Zuchter. xii +S19 pp. 179 jigs., 3 colmed 91s. Leipzig: W. Engelmann.
SCHOFIELD, RICHARD, 1921 Inheritance of webbedtoes. Jour. Heredity 12: 400, 401. 2 jigs.
VALENTI, ANNALOUISA, 1913 Sulla detenninazione del sesso nello mosche. Bios 2: 265-298.
WEMAN, H. L., 1917 The chromosomes of human spermatocytes. Amer. Jour. Anat. 21:
1-22. 4Qls.
Cwrr~cs7: N 1922