Sex Determination in Birds: Z and W Chromosomes
Figure 3: FISH mapping of DMRT1 on chicken Z chromosome.
a. Hybridization of DMRT1 cosmid to a female chicken metaphase spread. b. DAPI banding of the same metaphase spread, converted into G-like bands. c. G-banded karyotype of chicken macrosomes hybridized with DMRT1 (green spot on Z chromosome).
Copyright 1999 Nature Publishing Group. Nanda, I., et. al., 300 million years of conserved synteny between chicken Z and human chromosome 9, Nature Genetics, 21, 258 - 259
In birds, sex is determined by chromosomes known as the Z and W, and females are the heterogametic sex. Early on, it was apparent that there were notable differences in the mechanisms used for sex determination in birds and mammals. Working with chickens, scientists were unable to find a counterpart of the
SRY gene required for mammalian testis determination, so they searched for homologues of other genes that were required for testis formation in mammals. These investigations led to the discovery of the
DMRT1 gene on the chicken Z chromosome (Nanda
et al., 1999).
In mammals, the
DMRT1 gene product is a critical member of the testis-forming pathway initiated by
SRY. Two copies of the
DMRT1 gene are necessary for testis development, even in the presence of
SRY. In mammals, both sexes have two copies of
DMRT1, because it is located on an autosome (specifically, chromosome 9). In chickens, by contrast, only males possess two copies of
DMRT1, as it is located on the Z chromosome. Figure 3 shows the results of an
in situ hybridization experiment in which a
DRMT1 probe has been hybridized to the chromosomes of a female chicken. Figure 3b shows the appearance of the chromosomes under a microscope, and Figure 3a shows that the
DRMT1 probe hybridizes to a single region on the female's Z chromosome. (These are metaphase chromosomes, so hybridization is detected on the two sister chromatids.) Figure 3c shows selected chromosomes in a partial karyotype. One can readily see that the Z chromosome is significantly larger than the W chromosome.
The actual trigger for activating the testis-forming pathway in chickens remains unknown. Birds also differ significantly from mammals in that two unique genes on the W chromosome,
FET1 and
ASW, are necessary for female development. The function of
FET1 is unknown, but it is expressed in the gonads leading up to the time of sexual differentiation (Smith & Sinclair, 2004). Like mammals, chickens also have an indifferent gonad until around day four of development, after which an ovary or a testis starts to develop. Hormones then orchestrate the development of other sex-specific characteristics. In contrast with mammals, however, estrogen is required earlier in sex determination in chickens, and is, in fact, necessary for formation of the ovary. In fact, genetically male chickens can be converted to females if eggs are injected with estrogen at the sensitive stage of development.
The ZZ-ZW mechanism of sex determination is not restricted to birds. Within the vertebrates, a similar system of sex determination has been identified in reptiles, as well as in some fishes and amphibians.
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