LSEX-LINKED INHERITANCE
When parallelism was discovered between the X chro
mosome cycle and sex determination, itwas general
assumed that genes other than sex determiners were
also located on the X chromosome. Indeed, many
mutant genes such as the x,
blood alleles in humans
have been shown to be located on the chromosome X
Because of their location on the same chromosome as
sex determiners, they are said to be "sex-linked"
Morgan's Discovery of Sex Linkage
in Drosopbila
The first extensive experimental evidence for sexlink
age in a particular species came in 1910 with the
discovery by T.H. Morgan of a white-eyed mutant in
Drosopbila. A gene had undergone a change that re
sulted in a phenotypic alteration., This change ex
pressed itself as white eyes rather than the normal red
eyes. The white-eyed male first discovered was mated
with a red-eyed female. The F, flies were all red-eyed
SEXLUNKED INHERTANCE 83
predicted that a female of gen
chromosome, Morgan
and would have white
otvpe ww could be produced
eves, This was tested
experimentally with crosses be
eyed
Normal
fernale
White
male
[ween males with white eyes and E, females (ww)
half the females as
with red eyes. From these crosses,
white eyes, as predicted.
well as half the males had
Later studies many other genes"on the X
identified
of Drosopbila,
Vchromosome
of Sex-Linked Genes
Normal Patterns of Inheritance
Normal
female male animals
in male heterogametic
Most sex-linkedgenes however,
are on the X chromosome.
Some animals,
a few genes on the Y chromosome that
may carry
produce visible effecs on the phenotype of the organ
or bolandric genes would be
ism. Such "Ylnked"
father to son and never ap
from
transmitted directly
very rare in higher
pear females. Y linkage is clearly
in
marnmals. Xlinkage, on the other
animals, particularly
in all mammals
that have been
hand, is very common
studied; the X chromoSome contains a
mammalian
with major effects on pheno
large number of genes
type. chro
Flgure 4.16 A cross illustrating sex linkage in Drosophila. Further Drosopbila studies with
attachedX
female and a white-eyed
This cross s between a redeyed
(XX) showed that X chromosomes
with
male. Alleles are identified with their chromosomes. The mosomes
be transmitted directly from father
a Y chromosome. X-linked genes can
chromosomes are aberrant com
represents
to son. Attached-X
pound X chromosomes possessing a fused cen
tromere. When atached-X females are mated with
normal XY males, the XX female gametes fertilized
in XXY females (the Y is not
but the F, included both red and white in the propor with Y male gametes result
tion about 3 red to1 [Link]-eyed flies in the a male sex determiner in Drosopbila). Male X chromo
of
F, generation,however, were males. About half
of the some gametes that are fertilized with female gametes
but all an X chromosome result XO-sterile males
F, males had white eyes and half had red eyes, lacking
(see Fig, 4.6) that express the X-linked genes of the
femaleshad red eyes. In this experiment, the recessive
allele was expressed only in males. Morgan arrived
at father.
gene with the X In the absence of dominant alleles, a recessive
an explanation by associating this
chromosome, as is illustrated in Fig, 4.16.
allele, one (w) responsible for white eyes
such as the
in Drosopbila, can express itself. The crisscross pat
Becausethe male fly had only one X chromosome
of inberitance, which is characteristic of
sex
and a Y chromosomethat lacked most genesof the X, tern
that the allele for white eyes was linked genes, means that traits appearing in males are
was postulated
it
hemizygous and thus expressed Furthermore,
the mu transmitted (unexpessed) through their daughters to
tant allele present in the X chromosome
of the original the males in the next generation, where they re
expressed studies on the structures and
white-eved male was passed on to his daughters (he Cytological
Y chromosome to his sons). All the behavior of chromosomeshave rigorously established
transmited a
The the accuracy of Morgan's interpretation of sex linkage.
daughters therefore were carriers of the allele. F2
bemizygous males obtained their X chromosomes In D. melanogaster, the X and Y chromosomes can
received reádily beidentified by their appearance The X is
from tbeir beterozYROLS motbers. Half the
rod-shaped the centromere near one end,
w and developed red eyes, and half received
allele
whereas the Y
with
is hooklike, having a long and a short
the w and developed white eyes. The equal
allele
arm.
proportion of red eyed and white-eyed FE, males was
Although the Y chromasome is composed of het
thus explainedon thebasis of segregation of X chro
mosomes from the F, mothes. erochromatin and essentially is devoid of genes, one
small part of the short arm in D. melanogaster has a
Could white-eyed females occur? On the basis ol
homologous section on the X [Link] allele
his hypothesis that the gene was carried in the X
CHAPTER4 SEX DETERMINATION AND
SEX
84 LINKA
(bb) for bobbed on the X chromosome,
bristles or its illustrated in pedigree charts (Fig 418) is the stand..
wild-type allele (bb),may occur on the short arm of means of detecting sex-linked genes.
the Y chromosome. Genes such as bb with a locus on Sex linkage has been indicatedfor more than h
traits in humans, including,in addition to those alr
the Y chromosomeas well as on a homologous part of
the X chromosome are said to be incompletely sex mentioned, such important and distinctive traits
linked. The Drosopbila Y chromosomealso contains at optic atrophy (degeneration of the optic nerve), j
nile glaucoma (hardening of the eyeball), m
least four fertility factors besides the bobbed region.
Like the Y chromosome in Drosopbila, supernu (nearsightedness),defective iris, epidermal cysts
tichiasis (double eyelashes), white occipital lock
merary chromosomes in some species of animals and
hair, mitral stenosis (abnormality of the mitral valye
plants (e.g., mealy bugs and maize) are composed
the heart),and some forms of mental retardation (
mostly of beterocbromatin. Sometimes the hetero
chromatic regions of different chromosomes in the 4.19). Some of these traits have alternative forms th
"chromo are dependent on autosomal genes.
same cell coalesce and form an amorphous
center." This occurs in the giant salivary gland chro Although the patern now associated with sex int
mosomes of melanogaster, as is shown in Fig. 4.17. age was observed in human pedigrees many years a
D.
observed other the understanding of the genetic mechanism wac
The usual metaphase configuration in
direct consequence of Morgan's experimental wo
cellsof this species is shown in Fig. 4.17e with the
heterochromatic regions indicated in black. Giant with the white-eyed mutant in Drosopbila. The exp.
chromoSomesfrom a cell of a male larva are shown in nation given for sex-linked inheritance in Drosobhia
Fig. 4.17a. The heterochromatin near the centromere applies equally to traits in humans that are associate
of each autosome and the X chromosome, along with with genes on the X chromosome.
Several kinds of defective color vision have
making up nearly all the Y chromosome, coalesce
nom
chat
to form the chromocenter (Fig. 4.17c). been identified, and the genetic mechanisms contro!
Ja summary,the Y chromosome of Drosopbila ling color perception are more complex than at fis
(nd of many other organisns) mostly is heterochro suspected. Inherited defects in the ability of individ
matin and has only a few genes. The X chromosome, als to distinguish greens or reds are known to
with many genes, and the Y, with vitually none, estab sex-linked, whereas defects in blue color discrimine
tion are autosomal.
lishthe characteristic pattern of inheritance observed
The mother, with two X chromo
for sex-linked traits. Color perception is controlled by cone-shape
Somes, transmits one X to each gamete. Zygotes that cells in the retina of the eye. Three classes of cor
receive a Y chromosomefrom the father develop into cells, each containing light-absorbing proteins (p
males. These hemizygous male progeny express the ments) that sense a specific portion of the visibk
sek-linkd genes received from the mother. Zygotes spectrum, have been identified. The three types d
that receive two X chromosomes, one from each par cone cells are usually referred to as blue-absorbirg
ent, develop into females, The expression of sex green-absorbing, and red-absorbing, and the light se
linked traits in females follows the same pattern as sitivity of these cone cells is known to result from the
autosomal traits, with the recessive phenotype appear specific light-absorbingpigment that is present in ead
ing only n homozygotes. type of cone cell (Fig. 4.20).
The genes that encode the three light-absorbig
X-Linked Traits in Humans proteins of the retina have been isolated, and thet
nucleotide sequences determined The sequence
The inheritance pattern associated with sex linkage is
have been used to predict the amino acid sequencest
soobvious that it is ideal for genetic studies. This was, the three light-absorbing proteins. As might be a
in fact, the first pattern of inheritance to be recorded pectedforproteins that perform very similar function
for [Link] Greek philosophers noticed that the three light-absorbing proteins have very simil
some human traits tended to skip a generation. An Structures. In fact, the red- and the green-reept
inherited characteristic was observed in a father but proteins differ at only a few of the aminoacid subun
not in any of his children, either male or female, and that make up these visual pigments (Fig. 4.21)
then it would reappear in males of the next genera genes that encode the green- and red-receptor po
tion. This distinctive crisscross pattern, from fatber teins were shown to be located on the X chrom
tbrougbdaugbter to grandson, replacing the usual some thus the sex-linked patterns of inheritance a
patern for the F, and F generations, is now inter served for defects in green and red color vision
Dreted as evidence of sex linkage. Since humans are the following). The gene encoding the blue-rec
10t subjected to experimental procedures, the charac protein wasshown to be located on chromosome
reristic inheritance pattern in family groupsthat can be autosomc.
