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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
The perinucleolar compartment was first discovered on the periphery of the nucleus in 1992 by Andrea Getti et al. while studying the hnRNPI/PTB (polypyrimidine tract binding) protein. [2] Getti found that in addition to the nucleoplasm, the hnRNPI was staining a “discrete unidentified structure” always opposite of the nucleoli.
The nucleolus (/ nj uː ˈ k l iː ə l ə s, ˌ nj uː k l i ˈ oʊ l ə s /; pl.: nucleoli /-l aɪ /) is the largest structure in the nucleus of eukaryotic cells. [1] It is best known as the site of ribosome biogenesis. The nucleolus also participates in the formation of signal recognition particles and plays a role in the cell's response to ...
The location of NORs and the nucleolar cycle in human cells. Nucleolus organizer regions (NORs) are chromosomal regions crucial for the formation of the nucleolus.In humans, the NORs are located on the short arms of the acrocentric chromosomes 13, 14, 15, 21 and 22, the genes RNR1, RNR2, RNR3, RNR4, and RNR5 respectively. [1]
NADs are associated with nucleolus function. The nucleolus is the largest sub-organelle within the nucleus and is the principal site for rRNA transcription. It also acts in signal recognition particle biosynthesis, protein sequestration, and viral replication. [36] The nucleolus forms around rDNA genes from different chromosomes.
These are transcribed in the nucleolus by RNA polymerase I. 45S is processed in the nucleus via 32S rRNA to 28S [6] and 5.8S, [7] and via 30S to 18S, [8] as shown in the diagram. 18S is a component of the ribosomal 40S subunit. 28S, 5.8S and 5S, [9] which is transcribed independently, are components of 60S.
Nucleic acids consist of a chain of linked units called nucleotides. Each nucleotide consists of three subunits: a phosphate group and a sugar (ribose in the case of RNA, deoxyribose in DNA) make up the backbone of the nucleic acid strand, and attached to the sugar is one of a set of nucleobases.