Chromosomal Microdeletions and Genes' Functions: A cluster of chromosomal microdeletions and the deleted genes' functions

Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin

“…Th e human gene for Hs CaM KMT, c2orf34, is at locus 2p21, a region that is subject to deletions that are linked to cystinuria type I, hypotonia-cystinuria syndrome (HCS), an atypical HCS and the 2p21 deletion syndrome 15,16 ( Fig. 4 ).…”

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

“…The first, called hypotonia–cystinuria syndrome (HCS, MIM 606407), is characterised by neonatal and infantile hypotonia, poor feeding in neonates, growth retardation due to growth hormone deficiency, mild facial dysmorphism and cystinuria type I 1. The second, referred to as 2p21 deletion syndrome,2 shows in addition neonatal seizures, severe developmental delay, elevated serum lactate concentrations, and a reduced activity of the respiratory chain complexes I, III, IV and V 2 3. The difference in phenotype can be explained by the number of genes involved.…”

Calmodulin-Mediated Signal Transduction Pathways in Arabidopsis Are Fine-Tuned by Methylation

“…In addition, Gallus gallus domesticus (chicken) cell lines expressing a CaM Lys-115-Arg mutant protein do not show any alterations in growth (Panina et al, 2012). A relatively rare gene deletion syndrome in Homo sapiens (humans) includes partial deletion of the gene that codes for the enzyme responsible for CaM methylation (Parvari et al, 2001(Parvari et al, , 2005Parvari and Hershkovitz, 2007;Chabrol et al, 2008;Magnani et al, 2010). Lymphoblastoid cells from patients with this deletion syndrome have hypomethylated forms of CaM, and comparative phenotypic analyses of these individuals revealed several disorders including mild-to-moderate mental retardation, cytochrome c oxidase deficiency, and muscle weakness (Magnani et al, 2010;Magen et al, 2012).…”