ASS1

ASS1

A gene on chromosome 9q34.1 that encodes an enzyme which catalyses the penultimate step of the arginine biosynthetic pathway.
 
Molecular pathology
ASS1 mutations cause citrullinemia type 1.
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However, this capability is lost in many tumour types due to the down-regulation of the ASS1 enzyme required for arginine production.
Furthermore, ASS1 sequence analysis revealed that the patient was homozygous for the pathogenic variant, c.470G>A (p.R157H), which is associated with an acute neonatal (classical) form of citrullinemia.
In BMM, IFN-[alpha] short-term stimulation was associated with altered expression of genes associated with the nitric oxide cycle including the upregulation of argininosuccinate synthetase 1 (ASS1) and nitric oxide synthase 1 (NOS1), and downregulation of arginase 2 (ARG2) expression, which may favour flux of arginine towards NO production (Figure 4, Supplementary Figure S4).
The top core mRNA was ABP1, which was regulated by 13 miRNAs, followed by AQP3, ASS1, and TIMP3 (regulated by 6 miRNAs).
For example, the Corporate Entrepreneurship indicators were represented by the variables PRO1, PRO2 and PRO3 gathered under DPRO; the INO1 variables, INO2 and INO3, were gathered under DINO; and the ASS1 variables, ASS2 and ASS3, were gathered under DASS.
We performed an NGS-based panel testing of eight genes (ALDH18A1, ARG1, ASL, ASS1, CPS1, HMGCL, OAT, and OTC) revealing a hemizygous mutation in exon 6 of OTC gene (c.622G>A), which determines a substitution of alanine by threonine in the protein (p.A208T).
Since t(9;22) has never been reported in MCL, additional FISH analysis was carried out with the BCR/ABL plus translocation dual fusion (3 color) probe (Cytocell UK Ltd., Windsor, CT) consisting of probes for ASS1 (9q34.1 labeled in spectrum aqua), ABL1 (9q34.1 labeled in spectrum orange), and BCR (22q11.2 labeled in spectrum green) to confirm this t(9;22) which resulted in the characteristic BCR/ABL1 fusion.
In addition, similar elevation of transferrin (TF), peroxiredoxin 1 (PRDX1) and 3 (PRDX3), and progesterone receptor membrane component 1 (PGRMC1) and downregulation of urea cycle enzymes such as arginase 1 (ARG1), carbamoyl-phosphate synthase 1 (CPS1), argininosuccinate lyase (ASL), ornithine carbamoyltransferase (OTC), and argininosuccinate synthase 1 (ASS1) in the surrounding liver tissue of both the [Ogg1.sup.-/-] and [Ogg1.sup.+/+] PB groups were found.
Biological Gene number Partial related methylated genes function Adhesion 580 Sox-2, Shh, Itpkb, Pkd1, Reln, Ptk2b, Nck2, Ass1 Lphn1, Cdh9, Epdr1, Myf5, Pdpn, Has2, Fgfrl1, Fer Secretion 553 Lphn1, Pim3, Fst, Pim3, Pcsk6, Lax1, Sct, Sytl3 Plcd1, Ykt6, Jak1, Stat2, Myc, Csf2, Lifr, Sos1 Proliferation 787 Dixdc1, Lrp6, Edn3, Nkx2, Cyr61, Src, Sox8, Stk4 Ephb1, Sstr3, Rrm2, Tcf3, Grn, Rhoa, Apc, Nox4, Strn Neuronal 473 Bhlhb9, Cckar, Fzd2, Thy1, Pbx3, regeneration Otx2, Lhx8, Btg2 Klhl1, Dlg2, Pak1, Wnt3, Mif, Tctn1, Evl, Ext1, Als2 Axonal 215 Ifrd1, c-Jun, Bcl2, Tnn, Mbp, Slit3, regeneration Ist1, Drgx, Thy1 Unc5c, Ntrk2, Isl1, Ptk2, Dscam, Atl1, Dnm2, Cxcl12 Figure 3: (a) The distribution of differentially methylated regions (DMRs) peaks in different components of genome.
The ASS1 gene provides instructions for making argininosuccinate synthase 1, which is responsible for the third step of the urea cycle.
No depoimento de um dos entrevistados da ASS1, "Ele (o fornecedor) ate pode optar por nao aderir ao Protocolo, mas a gente mostra pra ele a viabilidade, especialmente quando ele precisar de algo junto a Cetesb, porque, como eu falei pra voce, quem ta no Protocolo tem certo privilegio ...".
Genes APE ESE KJ Expected sum ACOT7 -1.586 -1.516 -1.723 -3.102 APOBEC3F -1.444 -1.558 -1.647 -3.002 APOBEC3G -1.619 -1.376 -1.705 -2.995 ASS1 -1.630 -1.366 -1.834 -2.996 CXCL12 1.564 -7.500 7.597 0.064 F2RL2 2.211 1.454 2.594 3.665 GBP1 -1.729 -1.464 -1.636 -3.193 GLDN 1.569 1.464 1.772 3.033 H1ST1H2AC -1.765 -1.424 -1.558 -3.189 KRT18 -1.796 -1.591 -2.166 -3.387 LYPD1 -1.699 -1.464 -1.591 -3.163 NAMPT 1.860 -7.647 2.757 0.213 PSMB8 -1.597 -1.495 -1.439 -3.092 RCAN1 -1.647 -1.376 -1.444 -3.023 RNY4 2.092 1.361 1.510 3.453 SLC6A1 1.449 1.905 1.586 3.354 SLC02B1 2.990 1.449 3.238 4.439 SRXN1 2.063 1.361 1.952 3.424