Featured Research

from universities, journals, and other organizations

New Insight Into Human Ciliopathy

Date:
August 6, 2009
Source:
Cold Spring Harbor Laboratory
Summary:
Medical researchers have identified the molecular basis of the lethal developmental disorder, hydrolethalus syndrome, and reveal that hydrolethalus syndrome actually belongs to the emerging class of human ciliopathy diseases.

In the journal Genes & Development, Dr. Karen Oegema (UCSD) and colleagues identify the molecular basis of the lethal developmental disorder, hydrolethalus syndrome, and reveal that hydrolethalus syndrome actually belongs to the emerging class of human ciliopathy diseases.

"5 years ago a human genetics study linked Hydrolethalus syndrome to a mutation in a protein named HYLS1. Since this discovery the function of HYLS1 has remained unknown. Our work solves this mystery, showing that HYLS1 is a centriolar protein required for the formation of cilia, small hair-like cellular projections that execute a variety of essential motile and sensory functions," explains Dr. Oegema.

Hydrolethalus syndrome is a rare genetic disorder characterized by severe birth defects (hydrocephalus, polydactyly, cardio/pulmonary malformations) that result in stillbirth or early neonatal death. The majority of cases affect people of Finnish ancestry, where the incidence is roughly 1 in 20,000. Ten years ago it was discovered that hydrolethalus syndrome results from mutations in the HYLS1 gene, located on the long arm of chromosome #11.

Dr. Oegema and colleagues now show that the evolutionarily conserved HYLS1 protein is, in fact, a centriolar protein that is specifically required for cilia formation in both C. elegans and vertebrates. The researchers demonstrated that HYLS-1 stably incorporates into centrioles during their assembly, and plays a crucial role in the early step steps of the ciliogenesis pathway. Interestingly, however, HYLS-1 is dispensable for centriole assembly and centrosome function during cell division.

Their work expands the range of previously recognized human ciliopathies – which vary from polycystic kidney disease to male infertility and obesity – and establish hydrolethalus syndrome as one of the most severe ciliopathies identified to date.


Story Source:

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


Journal Reference:

  1. Alexander Dammermann, Hayley Pemble, Brian Mitchell, Ian McLeod, John R. Yates, Chris Kintner, Arshad B. Desai, and Karen Oegema. The Hydrolethalus Syndrome Protein HYLS-1 Links Core Centriole Structure To Cilia Formation. Genes and Development, September 1, 2009

Cite This Page:

Cold Spring Harbor Laboratory. "New Insight Into Human Ciliopathy." ScienceDaily. ScienceDaily, 6 August 2009. <www.sciencedaily.com/releases/2009/08/090804090948.htm>.
Cold Spring Harbor Laboratory. (2009, August 6). New Insight Into Human Ciliopathy. ScienceDaily. Retrieved April 23, 2014 from www.sciencedaily.com/releases/2009/08/090804090948.htm
Cold Spring Harbor Laboratory. "New Insight Into Human Ciliopathy." ScienceDaily. www.sciencedaily.com/releases/2009/08/090804090948.htm (accessed April 23, 2014).

Share This



More Health & Medicine News

Wednesday, April 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Big Pharma Braces for M&A Wave

Big Pharma Braces for M&A Wave

Reuters - Business Video Online (Apr. 22, 2014) Big pharma on the move as Novartis boss, Joe Jimenez, tells Reuters about plans to transform his company via an asset exchange with GSK, and Astra Zeneca shares surge on speculation that Pfizer is looking for a takeover. Joanna Partridge reports. Video provided by Reuters
Powered by NewsLook.com
How Smaller Plates And Cutlery Could Make You Feel Fuller

How Smaller Plates And Cutlery Could Make You Feel Fuller

Newsy (Apr. 22, 2014) NBC's "Today" conducted an experiment to see if changing the size of plates and utensils affects the amount individuals eat. Video provided by Newsy
Powered by NewsLook.com
How to Master Motherhood With the Best Work/Life Balance

How to Master Motherhood With the Best Work/Life Balance

TheStreet (Apr. 22, 2014) In the U.S., there are more than 11 million couples trying to conceive at any given time. From helping celebrity moms like Bethanny Frankel to ordinary soon-to-be-moms, TV personality and parenting expert, Rosie Pope, gives you the inside scoop on mastering motherhood. London-born entrepreneur Pope is the creative force behind Rosie Pope Maternity and MomPrep. She explains why being an entrepreneur offers the best life balance for her and tips for all types of moms. Video provided by TheStreet
Powered by NewsLook.com
Catching More Than Fish: Ugandan Town Crippled by AIDS

Catching More Than Fish: Ugandan Town Crippled by AIDS

AFP (Apr. 22, 2014) The village of Kasensero on the shores of Lake Victoria was where HIV-AIDS was first discovered in Uganda. Its transient population of fishermen and sex workers means the nationwide programme to combat the virus has had little impact. Duration: 02:30 Video provided by AFP
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