Abcb7基因是导致X连锁铁粒幼细胞贫血伴共济失调的原因，对造血作用至关重要。
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
作者信息
Pondarre Corinne, Campagna Dean R, Antiochos Brendan, Sikorski Lindsay, Mulhern Howard, Fleming Mark D
机构信息
Department of Pathology, Children's Hospital Boston, 320 Longwood Avenue, Boston, MA 02115, USA.
出版信息
Blood. 2007 Apr 15;109(8):3567-9. doi: 10.1182/blood-2006-04-015768. Epub 2006 Dec 27.
Abstract
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.
摘要
伴有共济失调的X连锁铁粒幼细胞贫血（XLSA/A）是一种罕见的遗传性铁粒幼细胞贫血综合征形式，与脊髓小脑共济失调相关，由线粒体ATP结合盒转运体Abcb7的突变引起。在此，我们表明Abcb7对造血至关重要，并正式证明XLSA/A是由Abcb7功能部分丧失突变直接或间接抑制血红素生物合成所致。
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本文引用的文献
1
The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis.
Hum Mol Genet. 2006 Mar 15;15(6):953-64. doi: 10.1093/hmg/ddl012. Epub 2006 Feb 8.
2
Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S cluster.
EMBO J. 2006 Feb 8;25(3):544-53. doi: 10.1038/sj.emboj.7600954. Epub 2006 Jan 19.
3
Differential gene expression profiling between wild-type and ALAS2-null erythroblasts: identification of novel heme-regulated genes.
Biochem Biophys Res Commun. 2006 Feb 3;340(1):105-10. doi: 10.1016/j.bbrc.2005.11.163. Epub 2005 Dec 7.
4
nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse.
Blood. 2005 Nov 15;106(10):3625-31. doi: 10.1182/blood-2005-01-0379. Epub 2005 Jun 30.
5
SOD2-deficiency anemia: protein oxidation and altered protein expression reveal targets of damage, stress response, and antioxidant responsiveness.
Blood. 2004 Oct 15;104(8):2565-73. doi: 10.1182/blood-2003-11-3858. Epub 2004 Jun 17.
6
Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase.
Blood. 2003 Apr 15;101(8):3274-80. doi: 10.1182/blood-2002-04-1212. Epub 2002 Dec 12.
7
Aberrant iron accumulation and oxidized status of erythroid-specific delta-aminolevulinate synthase (ALAS2)-deficient definitive erythroblasts.
Blood. 2003 Feb 1;101(3):1188-93. doi: 10.1182/blood-2002-01-0309. Epub 2002 Oct 3.
8
The genetics of inherited sideroblastic anemias.
Semin Hematol. 2002 Oct;39(4):270-81. doi: 10.1053/shem.2002.35637.
9
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
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