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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 October 21, 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 October 21, 2014).

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