Alternative titles; symbolsKIAA1811HGNC Approved Gene Symbol: BRSK1Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,283,996-55,312,561 (fro...
Alternative titles; symbols
HGNC Approved Gene Symbol: BRSK1
Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,283,996-55,312,561 (from NCBI)
▼ Cloning and Expression
By sequencing clones obtained from a size-fractionated adult brain cDNA library, Nagase et al. (2001) cloned BRSK1, which they designated KIAA1811. The deduced 715-amino acid protein shares 75% identity with BRSK2 (609236). The first methionine was not found within a Kozak context, indicating the cDNA may be incomplete. RT-PCR ELISA detected highest expression in adult brain, followed by fetal brain and adult spinal cord. Intermediate expression was detected in adult heart, pancreas, testis, ovary, lung, and kidney, and in fetal liver. Adult liver, spleen, and skeletal muscle showed little to no expression. All specific adult brain regions examined showed intermediate to high BRSK1 expression, with highest levels in caudate nucleus and substantia nigra.
By genomic sequence analysis, Nagase et al. (2001) mapped the BRSK1 gene to chromosome 19.
▼ Molecular Genetics
For discussion of an association between variation in the BRSK1 gene and age at natural menopause, see MENOQ2 (612884).
▼ Animal Model
Kishi et al. (2005) showed that SAD-A (BRSK2) and SAD-B (BRSK1), mammalian orthologs of a kinase needed for presynaptic differentiation in Caenorhabditis elegans, are required for neuronal polarization. Kishi et al. (2005) generated mice null for both SAD-A and SAD-B. Mice homozygous for deletion of only 1 gene were healthy and fertile, but double-knockout pups showed little spontaneous movement, were only weakly responsive to tactile stimulation, and died within 2 hours of birth. At embryonic day 19, principal divisions of brain, spinal cord, and peripheral nervous system had formed, but the forebrain was noticeably smaller in double-mutant embryos than in littermate controls. Double-mutant neurons often had a starburst morphology or processes that ran diagonally or tangentially rather than radially and axons were difficult to distinguish from dendrites.