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More
Than Just a Shrunken X
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The
small size of the Y lead to its reputation as a just a
"rotten X." |
In
addition to these critical "housekeeping" genes, the Y chromosome
contains the genetic information necessary to the formation
of sperm. How do we know?
Early
chromosome mapping research by the Human Genome Project led
to an important discovery: about one in every 4,000 boys is
born with a piece of his Y chromosome missing. When these
boys grow up, they produce few or no sperm. In almost every
case, the fathers of these boys (from whom they inherited
their Y chromosomes) have intact Y's, so the genetic deletion
is not inherited, but is rather a mutation that occurs either
in the process of sperm production in the father or in the
earliest stages of an embryo's life.
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The sex of
a baby alligator depends on how warm it was inside the
egg.
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It
turns out that missing any one of several regions of the Y
causes problems with sperm production. Among these regions,
one is missing in 12% of men who produce absolutely no sperm,
called the Azoospermia Factor C Region. Azoospermia, (pronounced
AY-zoh-SPER-mia,) means "absence of sperm."
Reading
the Book of Y
The
Y chromosome can be thought of as a book containing 24 million
letters. In 1992, David C. Page at the Whitehead Institute
began a search for the chapters missing in these infertile
males. But finding the missing chapters didn't automatically
reveal what genes - i.e., sentences - were in the missing
chapters. Page realized that sequencing - figuring out all
the letters in all the words in each sentence - would be the
fastest way to reveal all the genes in this Azoospermia Factor
C Region and to shed light on why it's so often deleted. 
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A gene on the X causes hemophilia, a famous example of
sex-linked inheritance. |
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Photos: Genetics & IVF Institute; Janet Stein Carter, University
of Cincinnati-Claremont College

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