
Barr Bodies: heterochromatinized
X-chromosomes
In mammals, males
are heterogametic (XY) and females homogametic (XX). Dosage compensation is achieved
by inactivation at random of one of the two X chromosomes. The
heterochromatized X
chromosome appears as a darkly-staining bodies attached to
the nuclear
membrane. The phenomenon was first described by Dr Murray L. Barr, a
Canadian cytogeneticist, and heterochromatin bodies are now called Barr Bodies. [The other dark bodies within the nucleus
are nucleoli, which represent
repetitive rDNA genes].
Barr body testing
was introduced in the 1966 Olympic games, in an effort to detect male
atheletes trying to "pass" as females, to gain a competitive advantage.
Teams from eastern Europe wer
particularly suspect. Such
allegations had been made for many years, and a number of athletes were
stripped of their medals as a result of ambiguous
genital sex. Cytological testing apparently never detected
deliberate fakery. It did however detect a number of cases of testicular
feminization syndrome (TFS),
a genetic condition in which an XY (male)
zygote develops as a phenotypically female adult, due to failure of
androgen receptors. Such individuals would test positive for the
presence of a Barr body. It appears that in most if not all cases, the
athletes
were themselves unaware of their condition.
Figure after M. Barr (1963) by SM Carr; all
text
material © 2009 by
Steven M. Carr