Intersex goats link to rare human disorder

March 12, 2000

If the great god Pan wore horns as a sign of male sexual pride, he might have been curious to know that all polled, or hornless, goats carry a gene for hermaphroditism. Now, it appears that a rare human disorder causing excess eyelid growth and premature ovarian failure is genetically related to the goat Polled Intersex Syndrome (PIS). In the March issue of Genome Research, Daniel Vaiman and colleagues (Institut National de la Recherche Agronomique) locate the gene region responsible for PIS and show that it is analogous to the human region responsible for Blepharophimosis Ptosis Epicanthus inversus syndrome (BPES).

Long ago scientists recognized that a single goat gene or gene region (PIS) causes both hornlessness and the growth of male genitals on female animals. To pinpoint this region, Vaiman and colleagues identified and located 16 genetic markers, or unique sequences, spaced out over the chromosome area harboring PIS. For each marker, they also identified several variations, or alleles. They then examined hundreds of goats to see whether particular alleles were strongly associated with hornlessness, thus identifying the genetic markers nearest PIS. According to their work, PIS is near two known genes (RBP1 and COP), as is the human disorder BPES. The eyelid deformities seen in BPES patients may thus be the human equivalent of hornlessness in goats. In addition, deciphering the obscure relationship between BPES-related ovarian failure and PIS-related hermaphroditism may help to explain how sex is determined in mammalian species.
-end-
Author:

Daniel Vaiman
INRA
Jouy-en-Josas 78350
FRANCE
Email: vaiman@biotec.jouy.inra.fr

Cold Spring Harbor Laboratory

Related Gene Articles from Brightsurf:

NIH gene therapy startup to increase AAV gene therapy efficiency
Maximizing the efficiency of the adeno-associated virus (AAV) platform for gene therapy is the aim of a new pilot project of the National Institutes of Health (NIH).

Alzheimer's risk gene disrupts endocytosis, but another disease-linked gene could help
MIT researchers find that astrocytes with the risk-increasing APOE4 variant show deficits of key cellular function called endocytosis, but overexpressing another Alzheimer's associated gene, PICALM, overcame the defect

New Human Gene Therapy editorial: Concern following gene therapy adverse events
Response to the recent report of the deaths of two children receiving high doses of a gene therapy vector (AAV8) in a Phase I trial for X-linked myotubular myopathy (MTM).

Gene therapy/gene editing combo could offer hope for some genetic disorders
A hybrid approach that combines elements of gene therapy with gene editing converted an experimental model of a rare genetic disease into a milder form, significantly enhancing survival, shows a multi-institutional study led by the University of Pennsylvania and Children's National Hospital in Washington, D.C.

Unraveling gene expression
EPFL chemists have uncovered the first steps in the process of gene expression by showing how the protein Rap1 pries open the tightly wound, compacted structure of DNA in the cell to gain access to specific genes.

Gene coding error found in rare, inherited gene cof lung-scarring disorder linked to short telomeres
By combing through the entire genetic sequences of a person with a lung scarring disease and 13 of the person's relatives, Johns Hopkins Medicine researchers say they have found a coding error in a single gene that is likely responsible for a rare form of the disease and the abnormally short protective DNA caps on chromosomes long associated with it.

The two faces of the Jekyll gene
Genes which are specific to a species or group of species can reflect important genetic changes within lineages.

Gene therapy vectors carrying the telomerase gene do not increase the risk of cancer
Researchers from the Spanish National Cancer Research Centre (CNIO) have shown in a new study that the gene therapy with telomerase that they have developed, and which has proven to be effective in mice against diseases caused by excessive telomere shortening and ageing, does not cause cancer or increase the risk of developing it, even in a cancer-prone setting.

Blindness gene discovered
Researchers from UNIGE have investigated a recessive genetic disorder that destroys the eyes from developing and results in childhood blindness.

Gene editing just got easier
An international team of researchers has made CRISPR technology more accessible and standardized by simplifying its complex implementation in a way that offers a broad platform for off-the shelf genome engineering.

Read More: Gene News and Gene Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.