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Table 3 Positional Candidate Genes for Emhd1-3

From: Heart disease in a mutant mouse model of spontaneous eosinophilic myocarditis maps to three loci

Gene

Name

Position Bld38

Example of Possible Biological Relevance

Emhd1 (Chr5: 145128608 – 147778059): 46 known protein-coding genes

 Arpc1b

Actin related protein 2/3 complex, subunit 1B

145,114,256-145,128,186

deficiency associated with severe inflammation, immunodeficiency, and cardiac vasculitis [19]

 Cdk8

Cyclin-dependent kinase 8

146,231,230-146,302,874

ectopic expression of Cdk8 induces eccentric hypertrophy and heart failure [20]

 Flt1

FMS-like tyrosine kinase 1

147,562,196-147,726,005

increased cardiac remodeling in cardiac-specific Flt1 receptor knockout mice [21]

 Flt3

FMS-like tyrosine kinase 3

147,330,741-147,400,489

activation improves post-myocardial infarction remodeling by protective effect on cardiac cells [22]

 Lnx2

Ligand of numb-protein X 2

147,016,655-147,076,572

affects T-cell-mediated immune responses by regulating level of the T-cell co-receptor, CD8α [23]

Emhd2 (Chr17: 15358323 – 23816187): 61 known protein-coding genes

 Dll1

Delta-like canonical Notch ligand 1

15,367,354-15,376,048

increased serum levels associated with diastolic dysfunction, reduced exercise capacity, and adverse outcome in chronic heart failure [24]

 Ppp2r1a

Protein phosphatase 2, regulatory subunit A, alpha (PP2A)

20,945,454-20,965,905

requisite for the function of regulatory T cells [25]

 Tnfrsf12a

TNF receptor superfamily, member 12a (fn14)

23,675,445-23,677,449

a novel role in the development of cardiac dysfunction and failure [26]

Emhd3 (Chr17: 31471362 – 46058209): 261 known protein-coding genes

 C2, C4a, C4b, Cfb

Complement components 2, 4a, 4b, and factor b (alternative pathway)

between 34.728-34.882

the alternative complement pathway is dysregulated in patients with chronic heart failure [27]

 H2 genes

~ 3 dozen MHC genes

between33.996-37.275

a humanized HLA-DR4 mouse model for autoimmune myocarditis [28]

 Tnf

Tumor necrosis factor

35,199,381-35,202,007

cardiac-specific overexpression causes lethal myocarditis in transgenic mice [29]

 Tnfrsf21

TNF receptor superfamily, member 21

43,016,555-43,089,188

KO mice show increased Th2 immune responses to T-dependent and -independent antigens [30]