Fanconi-Anämie-Gruppe-J-Protein

Fanconi-Anämie-Gruppe-J-Protein

Vorhandene Strukturdaten: 1T15, 1T29, 3AL3

Eigenschaften des menschlichen Proteins
Masse/Länge Primärstruktur 1249 Aminosäuren
Kofaktor BRCA1
Isoformen 2
Bezeichner
Gen-Namen BRIP1 BACH1; FANCJ; OF
Externe IDs
Enzymklassifikation
EC, Kategorie 3.6.1.-, Helikase
Vorkommen
Homologie-Familie ATP-dependent helicase
Übergeordnetes Taxon Eukaryoten
Orthologe
Mensch Hausmaus
Entrez 83990 237911
Ensembl ENSG00000136492 ENSMUSG00000034329
UniProt Q9BX63 Q5SXJ3
Refseq (mRNA) NM_032043 NM_178309
Refseq (Protein) NP_114432 NP_840094
Genlocus Chr 17: 61.68 – 61.86 Mb Chr 11: 86.06 – 86.2 Mb
PubMed-Suche 83990 237911

Das Fanconi-Anämie-Gruppe-J-Protein (FANCJ) (Gen-Name: BRIP1) ist ein Enzym in Eukaryoten, das in der Lage ist, doppelsträngige DNA durch Homologe Rekombination zu reparieren. Es ist ausschließlich im Zellkern zu finden. Beim Menschen wird am meisten FANCJ in den Hoden produziert. Mutationen im BRIP1-Gen können zu FANCJ-Mangel und dieser zu erblichem erhöhten Risiko für Brustkrebs oder zur seltenen Fanconi-Anämie führen.[1]

FANCJ gehört zur Familie der RecQ DEAH Helikasen. Es interagiert mit den BRCT-Einheiten des BRCA1-Proteins. Der entstehende Bindungskomplex hat eine wichtige Funktion bei der Reparatur von Gendefekten. Es öffnet die Stränge der DNA-Doppelhelix.

Das BRIP1-Gen liegt beim Menschen auf Chromosom 17, Genlocus q23.2. Auf dem gleichen Chromosom liegt auch BRCA1.[2]

Entdeckung und Funktion

Bei der äußerst seltenen Fanconi-Anämie wurde das BRIP1-Gen erstmals entdeckt. Sind beide Kopien des Gens mutiert, so führt dies bei den Betroffenen zu einem Zusammenbruch des blutbildenden Systems im Knochenmark sowie zu einem erhöhten Krebsrisiko.[3][4]

2006 untersuchte das britische Institute of Cancer Research 1212 Brustkrebs-Patientinnen ohne BRCA1-Mutation. Davon trugen neun (=0,74 %) eine Mutation von BRIP1. In einer Vergleichsgruppe von 2081 gesunden Frauen hatten nur zwei (=0,1 %) die BRIP1-Mutation. Durch die Mutation ist das im BRIP1-Gen codierte Protein offensichtlich nicht mehr in der Lage DNA-Schäden zu reparieren. In der Folge steigt die Wahrscheinlichkeit an Brustkrebs zu erkranken. Es wird geschätzt, dass Frauen mit einer Mutation im BRIP1-Gen ein doppelt so hohes Risiko haben, an Brustkrebs zu erkranken.[5]

Einzelnachweise

  1. ↑ UniProt Q9BX63
  2. ↑ UCSC Genome Browser on Human Mar. 2006 Assembly: chr17:57,114,767-57,295,537, abgerufen am 5. April 2008
  3. ↑ Universität Würzburg: Neue Erkenntnis zur Erbkrankheit Fanconi-Anämie. (Memento vom 7. November 2005 im Internet Archive), Pressemitteilung Nr. 056/2005 vom 8. September 2005.
  4. ↑ O. Levran u. a.: The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. In: Nature Genetics, 37/2005, S. 931–33.
  5. ↑ Genmutation verdoppelt Brustkrebs-Risiko. In: Der Spiegel, vom 9. Oktober 2006

Literatur

  • R. Litmann u. a.: BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. In: Cancer Cell, 8/2005, S. 255–65. PMID 16153896
  • S. B. Cantor, P. R. Andreassen: Assessing the link between BACH1 and BRCA1 in the FA pathway. In: Cell Cycle, 5/2006, S. 164–7. PMID 16357529
  • M. Peng u. a.: BACH1 is a DNA repair protein supporting BRCA1 damage response. In: Oncogene, 25/2006, S. 2245–53. PMID 16462773
  • E. Kumaraswamy, R. Shiekhattar: Activation of BRCA1/BRCA2-associated helicase BACH1 is required for timely progression through S phase. In: Mol Cell Biol, 27/2007, S. 6733–41. PMID 17664283
  • G. Eelen u. a.: Expression of the BRCA1-interacting protein Brip1/BACH1/FANCJ is driven by E2F and correlates with human breast cancer malignancy. In: Oncogene, 2008. PMID 18345034
  • B. Frank u. a.: BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study. In: BMC Cancer, 7/2007, S. 83, PMID 17504528

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