HIRA gene

BBC News

'Start of life' gene discovered

The gene helps sperm combine DNA with the egg's DNA
Scientists have found the gene responsible for controlling a first key
step in the creation of new life.
The HIRA gene is involved in the events necessary for the fertilisation
that take place once a sperm enters an egg.

Faults in this gene might explain why some couples struggle to get
pregnant despite having healthy sperm, say the researchers from the UK
and France.

Although their work in Nature is based on fruit flies, the same genetic
processes are present in humans.

A slight mutation in the HIRA gene means that life does not even get
started

Lead researcher Dr Tim Karr

It may be worth screening infertile couples to see if they have a
faulty version of HIRA, experts suggested.

Lead researcher Dr Tim Karr, from the University of Bath, said: "All
sexually reproducing animals do the same kind of DNA 'dance' when the
DNA from the mother's egg cell and the father's sperm cell meet for the
first time."

When the sperm enters the egg, its DNA has to undergo a complete
transformation so that it can properly join with the female DNA to form
a genetically complete new life.

Re-packaging

Sperm makes this change by swapping the type of 'packing material,
known as histone proteins, it contains.

The result is called the male pronucleus, which can then combine with
the female pronucleus.

The process is controlled by the HIRA gene.

There may be a rationale for screening infertile couples for
mutations in HIRA

Wolf Reik of the Babaraham Institute

Dr Karr, who worked alongside French scientists from Centre de
Génétiqiue Moléculaire et Cellulaire, said: "A single gene, HIRA,
looks after this re-packaging process, making it fundamental for those
first 15 minutes in the regeneration of a new life.

"This is one of the most crucial process that takes place in sexually
reproducing animals.

"A slight mutation in the HIRA gene means that life does not even get
started."

To understand the process better, the researchers studied a type of
mutant female fruit fly, known to biologists as a sesame mutant, which
they know produces eggs that do not allow a proper male pronucleus to
form.

They found that HIRA is the gene responsible for chaperoning the
assembly of the sperm pronucleus and if it is damaged in any way in the
egg then fertilisation fails.

The research was funded by a Wolfson Royal Society Merit Award, the
Centre National de la Recherche Scientifique and the French Ministry of
Research.

Wolf Reik of the Babaraham Institute said: "This is a really exciting
discovery.

"This could indeed be an explanation for some types of infertility in
humans; if there were females that carried this mutation, they would
not be able to conceive normally.

"There may be a rationale for screening infertile couples for mutations
in HIRA in order to provide best counselling on infertility."



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