Isolation and differential expression of two isoforms of the ROBO2/Robo2 axon guidance receptor gene in humans and mice

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• 作者：Ying Yue ; Bä ; rbel Grossmann ; Danuta Galetzka ; Ulrich Zechner ; Thomas Haaf
• 关键词：Axon guidance ; Break in synteny ; Chromosome 3p12.3 ; Evolutionary breakpoint ; Fetal brain development ; ROBO2 ; Segmental duplication
• 刊名：Genomics
• 出版年：2006
• 出版时间：December 2006
• 年：2006
• 卷：88
• 期：6
• 页码：772-778
• 全文大小：649 K

文摘

Expression of Robo receptor molecules is important for axon guidance across the midline of the mammalian central nervous system. Here we describe novel isoform a of human ROBO2, which is initially strongly expressed in the fetal human brain but thereafter only weakly expressed in adult brain and a few other tissues. The known isoform b of ROBO2 shows a more or less ubiquitous expression pattern, suggesting diverse functional roles. The genomic structure and distinct expression patterns of Robo2a and Robo2b have been conserved in the mouse, but in contrast to human ROBO2a mouse Robo2a is also abundant in adult brain. Exons 1 and 2 of human ROBO2a lie in an inherently unstable DNA segment at human chromosome 3p12.3 that is associated with segmental duplications, independent chromosome rearrangements during primate evolution, and homozygous deletion and loss of heterozygosity in various human cancers. The 5′ end of mouse Robo2a lies in a <150-kb DNA segment of break in synteny between mouse chromosome 16C3.1 and the human genome.