在PTPRH基因中的组织特异误解变异的功能影响评估,使用多工具计算框架

Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...

Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.

Epithelial tissues are large sheets of cells covering all of the surfaces of the body. These surfaces can be internal or external, for example, skin, airways, the digestive tract, the urinary system, and the reproductive system. Hollow organs and body cavities that do not connect to the body's exterior, including blood vessels and serous membranes, are lined by epithelial tissue known as the endothelium.
Epithelial tissues provide the body's first line of protection from physical,...

Connective tissues perform a broad range of functions in the body. Their primary function is to connect and link different tissues in the body and act as packaging material between tissues. The areolar tissue, a connective tissue prototype, commonly cements various tissue types in diverse body organs. In contrast, adipose tissue cushions internal organs while insulating the body from heat loss.
Hard connective tissues, such as bones and cartilage, provide structure and support to the body.