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tisdag 26 november 2013

APOBEC3 geenirykelmä sijoittuu kromosomiin 22.

Tästä geenirykelmästä on myös uutinen APOBEC3A geenitiedon kohdalla. Otan siteerauksen geenipankista. On varmistettu yhteydet tämän geenin ja sairauksine  välillä: hepatiitti Bvirusinfektio ja psoriasis.
Tuossa kun selasin  vaatimatonta kromosomivihkoni  karttaa, huomasin että kromosomissa 22 ei olltu TRIM-geenejä, muta sensijaan siinä on koko APOBEC-rykelmä, kaikki ne  7 päägeeniä ja lisäksi siinä on pseudogeenejä. Ne sijoittuvat alueelle Kr. 22 q13.1-q13.2 

Entrez Gene summary for APOBEC3A Gene:

This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a
cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are
structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by
this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by
restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of
foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also
thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jul 2012)

GeneCards Summary for APOBEC3A Gene: 

APOBEC3A (apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A) is a protein-coding gene. Diseases associated with APOBEC3A include hepatitis b virus infection, and psoriasis. GO annotations related to this gene include cytidine deaminase activity and deoxycytidine deaminase activity. An important paralog of this gene is APOBEC3G.

UniProtKB/Swiss-Prot: ABC3A_HUMAN, P31941
Function: DNA deaminase (cytidine deaminase) with restriction activity against viruses, foreign DNA and mobility of
retrotransposons. Exhibits antiviral activity against adeno-associated virus (AAV) and human T-cell leukemia virus
type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. Selectively targets single-stranded
DNA and can deaminate both methylcytosine and cytosine in foreign DNA. Can induce somatic hypermutation in the nuclear
and mitochondrial DNA. May also play a role in the epigenetic regulation of gene expression through the process of
active DNA demethylation

Gene Wiki entry for APOBEC3A Gene

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