scholarly journals Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

Cell ◽  
2011 ◽  
Vol 145 (4) ◽  
pp. 513-528 ◽  
Author(s):  
Liyun Sang ◽  
Julie J. Miller ◽  
Kevin C. Corbit ◽  
Rachel H. Giles ◽  
Matthew J. Brauer ◽  
...  
Keyword(s):  
Protein Network ◽  
Disease Genes

scholarly journals Disease genes and intracellular protein networks

2003 ◽  
Vol 15 (3) ◽  
pp. 223-227 ◽  
Author(s):  
S. Bortoluzzi ◽  
C. Romualdi ◽  
A. Bisognin ◽  
G. A. Danieli
Keyword(s):  
Protein Network ◽  
Cdna Libraries ◽  
Protein Networks ◽  
Disease Genes ◽  
Intracellular Protein ◽  
Scale Free ◽  
Specific Distribution ◽  
Human Genes ◽  
Genome Level ◽  
Important Nodes

By a computational approach we reconstructed genomic transcriptional profiles of 19 different adult human tissues, based on information on activity of 27,924 genes obtained from unbiased UniGene cDNA libraries. In each considered tissue, a small number of genes resulted highly expressed or “tissue specific.” Distribution of gene expression levels in a tissue appears to follow a power law, thus suggesting a correspondence between transcriptional profile and “scale-free” topology of protein networks. The expression of 737 genes involved in Mendelian diseases was analyzed, compared with a large reference set of known human genes. Disease genes resulted significantly more expressed than expected. The possible correspondence of their products to important nodes of intracellular protein network is suggested. Auto-organization of the protein network, its stability in time in the differentiated state, and relationships with the degree of genetic variability at genome level are discussed.

POPDC proteins and cardiac function

2019 ◽  
Vol 47 (5) ◽  
pp. 1393-1404 ◽  
Author(s):  
Thomas Brand
Keyword(s):  
Potential Role ◽  
Striated Muscle ◽  
Short Review ◽  
Effector Proteins ◽  
Muscle Disease ◽  
Disease Genes ◽  
Protein Protein Interaction ◽  
Interaction Partners ◽  
And Function

Abstract The Popeye domain-containing gene family encodes a novel class of cAMP effector proteins in striated muscle tissue. In this short review, we first introduce the protein family and discuss their structure and function with an emphasis on their role in cyclic AMP signalling. Another focus of this review is the recently discovered role of POPDC genes as striated muscle disease genes, which have been associated with cardiac arrhythmia and muscular dystrophy. The pathological phenotypes observed in patients will be compared with phenotypes present in null and knockin mutations in zebrafish and mouse. A number of protein–protein interaction partners have been discovered and the potential role of POPDC proteins to control the subcellular localization and function of these interacting proteins will be discussed. Finally, we outline several areas, where research is urgently needed.

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