New Method for Identifying the Causes of X-Linked Genetic Disorders

Genes on the X chromosome, which regulate embryonic development, are the focus of the current publication in the renowned journal Genome Research. Men have only one X chromosome, and therefore mutations on this chromosome disproportionately affect males, frequently leading to serious diseases such as hemophilia, muscular dystrophy and mental retardation.

Scientists of Helmholtz Zentrum München led by Dr. Heiko Lickert, principal investigator at the Institute of Stem Cell Research, in cooperation with the group led by Professor Janet Rossant at the Hospital for Sick Children in Toronto, investigated which X-linked genes are relevant to disease. They reported their findings in "Genome Research".

In cooperation with the Gene Trap Consortium coordinated by Professor Wolfgang Wurst of the Institute of Developmental Genetics, 58 genes were tested. That corresponds to 10 percent of the syntenic genes on the X chromosome. 17 of these 58 genes are essential for embryonic development and for 9 of these genes, mouse models for human diseases were generated. These models will be studied in detail in follow-up studies in order to gain new insights about the causes of human diseases.

For the first time, the effect of the respective mutation on embryonic development could be shown without generating individual mouse models. Until now, mutation screens were essential to close such knowledge gaps, but such screens are associated with much effort and expense. "This study brings us much closer to our goal of understanding the genetic causes of all X-linked diseases," Dr. Lickert said.

Original Publication:
Brian J. Cox et al., Phenotypic annotation of the mouse X chromosome; Genome Research 2010; Published in Advance June 14, 2010, doi: 10.1

Source: Helmholtz Zentrum München - German Research Center for Environmental Health