Abstract
A Drosophila-related expressed sequence tag (DRES) with sequence similarity to the peanut gene has previously been localized to human chromosome 22q11. We have isolated the cDNA corresponding to this DRES and show that it is a novel member of the family of septin genes, which encode proteins with GTPase activity thought to interact during cytokinesis. The predicted protein has P-loop nucleotide binding and GTPase motifs. The gene, which we call PNUTL1, maps to the region of 22q11.2 frequently deleted in DiGeorge and velo-cardio-facial syndromes and is particularly highly expressed in the brain. The mouse homologue, Pnutl1, maps to MMU16 adding to the growing number of genes from the DiGeorge syndrome region that map to this chromosome.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 5 April 1997 / Accepted: 18 July 1997
Rights and permissions
About this article
Cite this article
McKie, J., Sutherland, H., Harvey, E. et al. A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. Hum Genet 101, 6–12 (1997). https://doi.org/10.1007/s004390050576
Issue Date:
DOI: https://doi.org/10.1007/s004390050576