Disease relevance of CALM1

• OBJECTIVE: A convincing genetic association with hip osteoarthritis (OA) of a functional single nucleotide polymorphism (SNP) in the core promoter of the calmodulin 1 gene CALM1 was recently reported in a Japanese population [1].
• In this investigation, we examined the combined CK-MB time-activity curves during acute transmural myocardial infarction (AMI) in a group of patients receiving conventional therapy (CAMI) (n = 109), and in a group of nine patients with successful reperfusion by fibrinolytic therapy (RAMI) [2].
• To determine whether the repeat region affects hCALM1 expression and whether repeat expansions to numbers known to be associated with disease in other genes may alter expression, we tested luciferase reporter genes driven by the hCALM1 promoter and 5'-UTR containing 0, 7 (wild-type), 20, and 45 CAG repeats in human NT2/D1 teratoma cells [3].

Psychiatry related information on CALM1

• The instruments used to measure attitudes were a shortened form of the Californian attitudes towards mental illness scale (CAMI scale) and a social distance scale [4].

High impact information on CALM1

• Calmodulin is encoded in vertebrates by three different genes: CALM1, CALM2, and CALM3 [5].
• Human calmodulin is encoded by three genes CALM1, CALM2 and CALM3 located on different chromosomes [6].
• HUGO meeting in Toronto, March 1997. Calm before the storm. Human Genome Organization [7].
• The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population [1].
• A Japanese group has reported an association of the asporin gene ASPN with knee and hip osteoarthritis and an association of the calmodulin 1 gene CALM1 with hip osteoarthritis [8].

Biological context of CALM1

• METHODS: Bio-specimens from aviation accident fatalities are submitted to CAMI for analyses [9].
• These data indicate (1) that the endogenous repeat element is required for full expression of hCALM1, and (2) that some triplet repeat expansions in the 5'-UTR of protein-coding genes may be well tolerated and even optimize gene expression [3].

Anatomical context of CALM1

• The 4.1 kb CALM1 transcript localized to the cell body, but was also present within extending neurites [10].
• Since these are essential structural components of articular cartilage, the ASPN and CALM1 associations are predicted to adversely affect the maintenance of cartilage [8].
• This finding agrees with in vivo studies showing elevated levels of the 4.1 kb CALM1 transcript in adult rat central neurons and the presence of CALM1 transcripts in dendrites, and establishes a human in vitro model system to study individual CaM transcripts with respect to neuronal functions [10].

Associations of CALM1 with chemical compounds

• Intron interruptions were found at identical positions in human CALM2 as in CALM1 and CALM3; however, the overall size of CALM2 (16 kb) was almost twice that of the other two human CALM genes [6].

Other interactions of CALM1

• Characterization of the human CALM2 calmodulin gene and comparison of the transcriptional activity of CALM1, CALM2 and CALM3 [6].

Analytical, diagnostic and therapeutic context of CALM1

• To begin to address whether the 4.1 kb CALM1 transcript might play a unique role in providing local CaM pools, we determined its localization in differentiated IMR-32 cells using in situ hybridization [10].

References