arge regions of DNA are known as genomic disorders and are relatively common, ~1 per 1,000 births. Each disorder is characterized by a distinct set of neurobehavioral traits. For example, dup(17)(p11.2p11.2) is characterized by, among other things, learning disabilities, attention deficit disorder, and reduced body weight. Although it is known that duplication of a 3.7-Mb region of DNA in chromosome 17 band p11.2 causes dup(17)(p11.2p11.2), it is not known which of the 19 genes in this region is responsible for the dup(17)(p11.2p11.2) characteristics.
In a study appearing online on October 5, in advance of publication in the November print issue of the Journal of Clinical Investigation, James Lupski and colleagues from Baylor College of Medicine, Houston, show that normalizing only the number of copies of the gene Rai1 corrects the reduced body weight and learning defects observed in a mouse model of dup(17)(p11.2p11.2). This study, which indicates that duplication of a single gene -- Rai1 -- can lead to a complex disorder in mice, not only has implications for individuals with dup(17)(p11.2p11.2) but might also shed light on genes that regulate obesity and learning.
TITLE: Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)
James R. Lupski
Baylor College of Medicine, Houston, Texas, USA.
Phone: (713) 798-6530; Fax: (713) 798-5073; E-mail: firstname.lastname@example.org.
Centro de Estudios Cientficos, Valdivia, Chile.
Phone: +56-63-234514; Fax: +56-63-234517; E-mail: email@example.com.
View the PDF of this article at: https://www.the-jci.org/article.php?id=28953
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