Effect of progerin on genes involved in progeria (Homo sapiens)

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2, 432, 815, 6, 85, 7-9TranscriptionHP1Heterochromatin silencingTranscriptionMi-2/NuRD complexEuchromatin silencingNuclear abnormalitiesDysfunctional adipose tissueAccumulation DNA damageMethyl groupMethylationNotch signalingMBD3LEF1KDM1AProgerinHDAC2CBX3CHD3RBBP4E2F1p53 pathwayHistone H3.3MBD2CBX1MTA2CHD4HDAC1MTA3SKIPHistone H3.2Histone H3.1Wnt pathwaySREBF1Histone H3.2CBX5Histone H3.3MTA1Histone H3.1RBBP7SUV39H1CBX1CBX3CBX5SUV39H1RB1TP53Bone abnormalitiesEpigenetic changesApoptosis/senescence


Description

The effect of progerin on the involved genes in HGPS. Each coloured box shows a different element of the pathway. The red box on the upper right shows that upregulation of the p53 pathway leads to apoptosis and senescence. The box beneath the red one, the purple one, indicates the inhibition of the Wnt pathway by progerin which results in bone abnormalities. The blue box portraits the epigenetic changes done by heterochromatin and euchromatin silencing. The green box shows that progerin activates SKIP which stimulates the Notch signaling pathway. The orange box surrounds the Mi-2/NuRD complex which is depleted by progerin leading mainly to epigenetic changes. The final yellow box shows the inhibition of SERBP1 by progerin resulting in dysfunctional adipose tissue. Legend shows basic and MIM-interactions and indication for methylation.

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Bibliography

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  1. Daemen S, Kutmon M, Evelo CT; ''A pathway approach to investigate the function and regulation of SREBPs.''; Genes Nutr, 2013 PubMed Europe PMC Scholia
  2. Zhang Y, Reinberg D; ''Transcription regulation by histone methylation: interplay between different covalent modifications of the core histone tails.''; Genes Dev, 2001 PubMed Europe PMC Scholia
  3. Hernandez L, Roux KJ, Wong ES, Mounkes LC, Mutalif R, Navasankari R, Rai B, Cool S, Jeong JW, Wang H, Lee HS, Kozlov S, Grunert M, Keeble T, Jones CM, Meta MD, Young SG, Daar IO, Burke B, Perantoni AO, Stewart CL; ''Functional coupling between the extracellular matrix and nuclear lamina by Wnt signaling in progeria.''; Dev Cell, 2010 PubMed Europe PMC Scholia
  4. Vidak S, Foisner R; ''Molecular insights into the premature aging disease progeria.''; Histochem Cell Biol, 2016 PubMed Europe PMC Scholia
  5. Millard CJ, Varma N, Saleh A, Morris K, Watson PJ, Bottrill AR, Fairall L, Smith CJ, Schwabe JW; ''The structure of the core NuRD repression complex provides insights into its interaction with chromatin.''; Elife, 2016 PubMed Europe PMC Scholia
  6. Gonzalo S, Kreienkamp R, Askjaer P; ''Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations.''; Ageing Res Rev, 2017 PubMed Europe PMC Scholia
  7. Prokocimer M, Barkan R, Gruenbaum Y; ''Hutchinson-Gilford progeria syndrome through the lens of transcription.''; Aging Cell, 2013 PubMed Europe PMC Scholia
  8. Cox LS, Faragher RG; ''From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing.''; Cell Mol Life Sci, 2007 PubMed Europe PMC Scholia
  9. Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS; ''Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.''; Proc Natl Acad Sci U S A, 2004 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
128823view23:53, 22 February 2024EweitzModified title
128822view23:52, 22 February 2024EweitzModified description
123412view11:13, 25 July 2022EgonwMade three pathways clickable
116686view14:17, 9 May 2021EweitzModified title
108245view10:02, 2 December 2019FehrhartAdded protein ID for progeria - isoform 6 of LMNA
108063view13:20, 27 November 2019FehrhartOntology Term : 'disease pathway' added !
98049view05:35, 13 July 2018FehrhartAdded ID for p53 pathway
98027view09:40, 4 July 2018Lorasimonslayout
98025view09:31, 4 July 2018Lorasimonschange gene- SREBF1 - add references
98004view12:44, 2 July 2018DeSlChanged legend arrow to graphical line.
98003view12:43, 2 July 2018DeSlCOnnected unconnected line
97992view12:09, 29 June 2018LorasimonsOntology Term : 'progeria' added !
97991view12:08, 29 June 2018LorasimonsModified description
97990view11:47, 29 June 2018LorasimonsNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
CBX1GeneProductENSG00000108468 (Ensembl)
CBX3GeneProductENSG00000122565 (Ensembl)
CBX5GeneProductENSG00000094916 (Ensembl)
CHD3GeneProductENSG00000170004 (Ensembl)
CHD4GeneProductENSG00000111642 (Ensembl)
E2F1GeneProductENSG00000101412 (Ensembl)
HDAC1GeneProductENSG00000116478 (Ensembl)
HDAC2GeneProductENSG00000196591 (Ensembl)
Histone H3.1ProteinP68431 (Uniprot-TrEMBL)
Histone H3.2ProteinQ71DI3 (Uniprot-TrEMBL)
Histone H3.3ProteinP84243 (Uniprot-TrEMBL)
KDM1AGeneProductENSG00000004487 (Ensembl)
LEF1GeneProductENSG00000138795 (Ensembl)
MBD2GeneProductENSG00000134046 (Ensembl)
MBD3GeneProductENSG00000071655 (Ensembl)
MTA1GeneProductENSG00000182979 (Ensembl)
MTA2GeneProductENSG00000149480 (Ensembl)
MTA3GeneProductENSG00000057935 (Ensembl)
Notch signalingPathwayWP268 (WikiPathways)
ProgerinProtein
RB1GeneProductENSG00000139687 (Ensembl)
RBBP4GeneProductENSG00000162521 (Ensembl)
RBBP7GeneProductENSG00000102054 (Ensembl)
SKIPGeneProductENSG00000132376 (Ensembl)
SREBF1GeneProductENSG00000072310 (Ensembl)
SUV39H1GeneProductENSG00000101945 (Ensembl)
TP53GeneProductENSG00000141510 (Ensembl)
Wnt pathwayPathwayWP363 (WikiPathways)
p53 pathwayPathwayWP3982 (WikiPathways)

Annotated Interactions

No annotated interactions

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