|  Help  |  About  |  Contact Us

Publication : Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7.

First Author  Nagamachi A Year  2013
Journal  Cancer Cell Volume  24
Issue  3 Pages  305-17
PubMed ID  24029230 Mgi Jnum  J:202604
Mgi Id  MGI:5520108 Doi  10.1016/j.ccr.2013.08.011
Citation  Nagamachi A, et al. (2013) Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell 24(3):305-17
abstractText  Monosomy 7 and interstitial deletion of 7q (-7/7q-) are well-recognized nonrandom chromosomal abnormalities frequently found among patients with myelodysplastic syndromes (MDSs) and myeloid leukemias. We previously identified candidate myeloid tumor suppressor genes (SAMD9, SAMD9-like = SAMD9L, and Miki) in the 7q21.3 subband. We established SAMD9L-deficient mice and found that SAMD9L(+/-) mice as well as SAMD9L(-/-) mice develop myeloid diseases resembling human diseases associated with -7/7q-. SAMD9L-deficient hematopoietic stem cells showed enhanced colony formation potential and in vivo reconstitution ability. SAMD9L localizes in early endosomes. SAMD9L-deficient cells showed delays in homotypic endosome fusion, resulting in persistence of ligand-bound cytokine receptors. These findings suggest that haploinsufficiency of SAMD9L and/or SAMD9 gene(s) contributes to myeloid transformation.
Quick Links:
 
Quick Links:
 

Expression

Publication --> Expression annotations

 

Other

91 Bio Entities

Trail: Publication

0 Expression