Submitted April 7, 2006
Accepted August 15, 2006
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis
Corinne Pondarre, Dean R Campagna, Brendan Antiochos, Lindsay Sikorski, Howard Mulhern, and Mark D Fleming*
Department of Pathology, Children's Hospital Boston, and Harvard Medical School, Boston, MA
* Corresponding author; email: mark.fleming{at}childrens.harvard.edu.
X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the mitochondrial ATP-binding cassette transporter Abcb7. Here, we show that Abcb7 is essential for hematopoiesis and formally demonstrate that XLSA/A is due to partial loss of function mutations in Abcb7 that directly or indirectly inhibit heme biosynthesis.
