Disease relevance of PLXND1

• Importantly, we found PLXND1 expression also in a number of human brain tumors, both of primary and metastatic origin [1].
• Via panning of a phage display library, we isolated two phages that carry single-domain antibodies with specific affinity towards a PLXND1-specific peptide [1].
• We have performed an extensive mutation analysis on a recently identified positional candidate gene, PLEXIN-D1, for Möbius syndrome 2 mapping to chromosome 3q21-q22 [2].
• Here we describe, using in situ hybridization, that endothelial plxnD1 expression is regained during tumor angiogenesis in a mouse model of brain metastasis [1].

High impact information on PLXND1

• Endothelial cells gradually loose plxnD1 expression during development [1].
• We previously reported that during mouse embryogenesis, plexin D1 (plxnD1) is expressed on neuronal and endothelial cells [1].
• The cDNA for PLXND1 is 7095 base pairs in length, coding for a predicted protein of 1925 amino acids [3].

Biological context of PLXND1

• We characterised the cDNA and predicted protein, and examined the expression pattern during mouse embryogenesis of a positional candidate gene, PLEXIN-D1 (PLXND1) [3].

Analytical, diagnostic and therapeutic context of PLXND1

• Immunohistochemistry with these single-domain antibodies on the same tumors that were used for in situ hybridization confirmed PLXND1 expression on the protein level [1].
• Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients [2].

References