Distinct Brca1 Mutations Differentially Reduce Hematopoietic Stem Cell Function

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• 作者：Victoria E. Mgbemena¹ ; ⁵ ; Robert A.J. Signer² ; ⁴ ; ⁵ ; Ranjula Wijayatunge¹ ; Travis Laxson¹ ; Sean J. Morrison² ; ³ ; Theodora S. Ross¹ ; ⁶ ; ^{theo.ross@utsouthwestern.edu}
• 关键词：hematopoiesis ; hematopoietic stem cells ; pancytopenia ; Fanconi anemia ; BRCA1 mutations ; gene targeting ; Cre ; humanization
• 刊名：Cell Reports
• 出版年：2017
• 出版时间：24 January 2017
• 年：2017
• 卷：18
• 期：4
• 页码：947-960
• 全文大小：3955 K
• 卷排序：18

文摘

Mouse hematopoietic stem cells (mHSCs) require normal Brca1 to survive Knocked-in wild-type human BRCA1 cDNA fully substitutes for mouse Brca1 A BRCA1/5382insC mutation is more deleterious to mHSCs than a Brca1-null allele