Featured Research

from universities, journals, and other organizations

Signs Of The Ancient Mariner: Scientists Locate Elements Implicated In Human Genetic Disorders

Date:
September 29, 1999
Source:
Cold Spring Harbor Laboratory
Summary:
In a study published in the September issue of Genome Research, Lawrence Reiter, James Lupski (Baylor College of Medicine), and colleagues use fluorescent imaging to locate 109 mariner elements across the human genome, revealing potential undiscovered links between these elements and other hereditary human diseases.

Chromosomes swap DNA to create variety in the gene pool, but disorders can result if the exchanged regions don't match up properly. Recent studies suggest genetic elements called mariner transposons stimulate such mismatching exchanges underlying disorders like Charcot-Marie-Tooth disease and hereditary neuropathy.

In a study published in the September issue of Genome Research, Lawrence Reiter, James Lupski (Baylor College of Medicine), and colleagues use fluorescent imaging to locate 109 mariner elements across the human genome, revealing potential undiscovered links between these elements and other hereditary human diseases.

The mariner transposon encodes for a protein that cleaves DNA and also acts as a cleavage target for this protein. Like all transposons, mariner elements can jump around the genome, excising and inserting themselves in different locations over time. These cleavage events may stimulate chromosomes to swap DNA, making the mariner a potential hotspot for genetic change - as well as genetic error.

To examine the occurrence of mariner across the human genome, Reiter and colleagues designed fluorescent probes that bind to mariner elements and applied these probes to whole human chromosomes. The chromosomes developed fluorescent bands revealing the locations of mariner elements, some of which correspond to sites of known genetic disorders such as growth hormone deficiency and hemophilia A.

This work provides the first, preliminary evidence that places mariner in the vicinity of these disparate human diseases. So it may be apt now to recall the words of Samuel Coleridge's ancient mariner: "And I had done a hellish thing/And it would work 'em woe."


Story Source:

The above story is based on materials provided by Cold Spring Harbor Laboratory. Note: Materials may be edited for content and length.


Cite This Page:

Cold Spring Harbor Laboratory. "Signs Of The Ancient Mariner: Scientists Locate Elements Implicated In Human Genetic Disorders." ScienceDaily. ScienceDaily, 29 September 1999. <www.sciencedaily.com/releases/1999/09/990929022428.htm>.
Cold Spring Harbor Laboratory. (1999, September 29). Signs Of The Ancient Mariner: Scientists Locate Elements Implicated In Human Genetic Disorders. ScienceDaily. Retrieved September 22, 2014 from www.sciencedaily.com/releases/1999/09/990929022428.htm
Cold Spring Harbor Laboratory. "Signs Of The Ancient Mariner: Scientists Locate Elements Implicated In Human Genetic Disorders." ScienceDaily. www.sciencedaily.com/releases/1999/09/990929022428.htm (accessed September 22, 2014).

Share This



More Health & Medicine News

Monday, September 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Sierra Leone in Lockdown to Control Ebola

Sierra Leone in Lockdown to Control Ebola

AP (Sep. 21, 2014) Sierra Leone residents remained in lockdown on Saturday as part of a massive effort to confine millions of people to their homes in a bid to stem the biggest Ebola outbreak in history. (Sept. 20) Video provided by AP
Powered by NewsLook.com
Sierra Leone's Nationwide Ebola Curfew Underway

Sierra Leone's Nationwide Ebola Curfew Underway

Newsy (Sep. 20, 2014) Sierra Leone is locked down as aid workers and volunteers look for new cases of Ebola. Video provided by Newsy
Powered by NewsLook.com
Changes Found In Brain After One Dose Of Antidepressants

Changes Found In Brain After One Dose Of Antidepressants

Newsy (Sep. 19, 2014) A study suggest antidepressants can kick in much sooner than previously thought. Video provided by Newsy
Powered by NewsLook.com
Could Grief Affect The Immune Systems Of Senior Citizens?

Could Grief Affect The Immune Systems Of Senior Citizens?

Newsy (Sep. 19, 2014) The study found elderly people are much more likely to become susceptible to infection than younger adults going though a similar situation. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins