FANCM

FANCM

A gene on chromosome 14q21.2 that encodes a protein of the Fanconi anaemia complementation group (here, complementation group M), the members of which are related not by sequence similarity, but rather by their assembly into a common nuclear protein complex.
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The findings, led by Jordi Surralles, Professor at the University at Autonoma de Barcelona, showed that the genetic syndrome is caused by mutations in both copies of the FANCM gene - also known as biallelic mutations.
To do this they investigated three human genes associated with cancer development: FANCM (mutations of which are associated with blood cancers), BRCA1 (mutations of which are commonly found in patients with breast and ovarian cancers), and BLM (mutations of which cause a variety of cancers).
As a result, the team found that simultaneous inactivation of BLM and FANCM or of BRCA1 and FANCM resulted in dramatic increases of unrepaired DNA damages, preventing the cancerous cells from further reproducing.
Genes Tested AtP ALK APC ATM BAP1 BRCA2 BRIP1 BUB1B CDC73 CDH1 CEP57 CHEK2 CYLD DDB2 DICER1 ERCC3 ERCC4 ERCC5 EXT1 EXT2 FANCD2 FANCE FANCF FANCG FANCI GATA2 GPC3 HNF1A HOXB13 HRAS MLH1 MHS2 MSH6 MUTYH NBN PHOX2B PMS1 PMS2 PPM1D PRF1 RAD51D RBI RECQL4 RET RHBDF2 SDHC SDHD SLX4 SMAD4 SMARCA4 TP53 TSC1 TSC2 VHL WT1 BARD1 BLM BMPR1A BRCA1 CDK4 CDKN1C CDKN2A CEBPA DI53L2 EGFR EPCAM ERCC2 EZH2 FANCA FANCB FANCC FANCL FANCM FH FLCN KIT MAX MEN1 MET NF1 NF2 NSD1 PALB2 PRKAR1A PTCH1 PTEN RAD51C RUN XI SBDS SDHAF2 SDHB SMARCB1 STK11 5UFU TMEM127 WRN XPA XPC This chart shows all 98 cancer susceptible genes included in this new test.
Deans, analysed the FA gene FANCM as it directly binds to DNA and has been known to have specificity for substrates that are alike those linked with the BS core complex.
Scientists recognized two regions in the FANCM protein that physically linked the FA core complex and the BS complex.
Researchers proved that a interruption in the interaction between the two core complexes and FANCM led to almost same chromosomal repair defects representative of both BA and FA cells.