Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Regulating human X chromosomes doesn’t use same gene as in mouse

01.08.2002


A gene thought to keep a single X chromosome turned on in mice plays no such role in humans, Johns Hopkins researchers report in the August issue of the American Journal of Human Genetics.



The finding is likely to relegate the disproven gene to relative obscurity, at least in humans, says Barbara Migeon, M.D., of the McKusick-Nathans Institute of Genetic Medicine, whose laboratory found the human version of the gene in 2001. It also moves the search for the gene from the X chromosome to the 22 other types of chromosomes found in human cells, she adds.

In mammals, one of the two X chromosomes inherited by all females is turned off during development to prevent a dangerous double dose of proteins. A gene called Xist unquestionably turns off X chromosomes in mice, humans and other mammals. Because every cell needs one active X chromosome, Xist must be suppressed on one X in both females and males (which have an X and a Y chromosome). Which gene (or genes) does this is still in question, says Migeon.


In mice, researchers elsewhere pointed to the Tsix gene, because it suppressed Xist and was itself expressed only on the active X. However, studying cells from various human developmental stages, Migeon and her team discovered that human Tsix is expressed only on the inactive X chromosome, right alongside Xist. The two continue to be expressed together until after birth, when for reasons unknown Tsix gradually disappears.

"The difference is striking," says Migeon, also a professor of pediatrics. "In mice, researchers have suggested that Tsix was the gene in mammals that suppresses Xist and allows an X chromosome to remain active, but we’ve shown clearly that it does not do this in humans."

Migeon suggests instead that the mouse Tsix is involved in imprinting, a way cells determine which of two gene copies to use to make proteins that depends only on which parent the copy came from. In mice, X-inactivation in the placenta is imprinted -- the X from the mother is always "on." In other embryonic tissues, however, inactivation occurs randomly -- the X from either the mother or father could be on. In humans, X-inactivation is random for all tissues, including the placenta.

"Human and mouse Tsix are very different from one another," says Migeon. "Sequence differences and missing regions in human Tsix are a window on what’s happening in the mouse and help explain why the gene doesn’t have the same function in humans."

Much remains unknown about human Tsix, including what, if anything, it does in humans. However, Migeon will leave those mysteries for others to investigate, choosing instead to continue a 30-year quest to fully understand X-inactivation in human development.

"We expect to find a gene on one of the other chromosomes that turns off Xist in a random fashion," says Migeon. "It is difficult to envision how a gene on the X chromosome could, by itself, regulate the function of Xist on only one member of the X chromosome pair."

To track down Xist’s true suppressor, Migeon and her colleagues are studying human cells with "trisomies" -- cells that have 23 pairs of chromosomes plus a third copy of one chromosome. In these cells, if the Xist-suppressing gene is on the chromosome with three copies, X-inactivation would be abnormal, Migeon says.


The studies were funded by the National Institutes of Health. Authors on the study are Migeon, Catherine Lee, Ashis Chowdhury and Heather Carpenter, all of Johns Hopkins.

Joanna Downer | EurekAlert!
Further information:
http://www.journals.uchicago.edu/AJHG/journal/issues/v71n2/024004/024004.web.pdf
http://www.hopkinsmedicine.org

More articles from Life Sciences:

nachricht New eDNA technology used to quickly assess coral reefs
18.04.2019 | University of Hawaii at Manoa

nachricht New automated biological-sample analysis systems to accelerate disease detection
18.04.2019 | Polytechnique Montréal

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Explosion on Jupiter-sized star 10 times more powerful than ever seen on our sun

A stellar flare 10 times more powerful than anything seen on our sun has burst from an ultracool star almost the same size as Jupiter

  • Coolest and smallest star to produce a superflare found
  • Star is a tenth of the radius of our Sun
  • Researchers led by University of Warwick could only see...

Im Focus: Quantum simulation more stable than expected

A localization phenomenon boosts the accuracy of solving quantum many-body problems with quantum computers which are otherwise challenging for conventional computers. This brings such digital quantum simulation within reach on quantum devices available today.

Quantum computers promise to solve certain computational problems exponentially faster than any classical machine. “A particularly promising application is the...

Im Focus: Largest, fastest array of microscopic 'traffic cops' for optical communications

The technology could revolutionize how information travels through data centers and artificial intelligence networks

Engineers at the University of California, Berkeley have built a new photonic switch that can control the direction of light passing through optical fibers...

Im Focus: A long-distance relationship in femtoseconds

Physicists observe how electron-hole pairs drift apart at ultrafast speed, but still remain strongly bound.

Modern electronics relies on ultrafast charge motion on ever shorter length scales. Physicists from Regensburg and Gothenburg have now succeeded in resolving a...

Im Focus: Researchers 3D print metamaterials with novel optical properties

Engineers create novel optical devices, including a moth eye-inspired omnidirectional microwave antenna

A team of engineers at Tufts University has developed a series of 3D printed metamaterials with unique microwave or optical properties that go beyond what is...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Revered mathematicians and computer scientists converge with 200 young researchers in Heidelberg!

17.04.2019 | Event News

First dust conference in the Central Asian part of the earth’s dust belt

15.04.2019 | Event News

Fraunhofer FHR at the IEEE Radar Conference 2019 in Boston, USA

09.04.2019 | Event News

 
Latest News

New automated biological-sample analysis systems to accelerate disease detection

18.04.2019 | Life Sciences

Explosion on Jupiter-sized star 10 times more powerful than ever seen on our sun

18.04.2019 | Physics and Astronomy

New eDNA technology used to quickly assess coral reefs

18.04.2019 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>