Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Duane L. Guernsey; Haiyan Jiang; Dean R. Campagna; Susan C. Evans; Meghan Ferguson; Mark D. Kellogg; Mathieu Lachance; Makoto Matsuoka; Mathew Nightingale; Andrea Rideout; Louis Saint-Amant; Paul J. Schmidt; Andrew Orr; Sylvia S. Bottomley; Mark D. Fleming; Mark Ludman; Sarah Dyack; Conrad V. Fernandez; Mark E. Samuels

doi:10.1038/ng.359

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Duane L. Guernsey, Haiyan Jiang, Dean R. Campagna, Susan C. Evans, Meghan Ferguson, Mark D. Kellogg, Mathieu Lachance, Makoto Matsuoka, Mathew Nightingale, Andrea Rideout, Louis Saint-Amant, Paul J. Schmidt, Andrew Orr, Sylvia S. Bottomley, Mark D. Fleming, Mark Ludman, Sarah Dyack, Conrad V. Fernandez, Mark E. Samuels

Medicine

Research output: Contribution to journal › Article › peer-review

209 Citations (Scopus)

Abstract

The sideroblastic anemias are a heterogeneous group of congenital and acquired hematological disorders whose morphological hallmark is the presence of ringed sideroblastsbone marrow erythroid precursors containing pathologic iron deposits within mitochondria. Here, by positional cloning, we define a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial carrier family protein SLC25A38, and demonstrate that SLC25A38 is important for the biosynthesis of heme in eukaryotes.

Original language	English
Pages (from-to)	651-653
Number of pages	3
Journal	Nature Genetics
Volume	41
Issue number	6
DOIs	https://doi.org/10.1038/ng.359
Publication status	Published - Jun 2009

Bibliographical note

Funding Information:
We gratefully acknowledge the participation of all the families with this genetic disorder. We thank P. Drapeau for advice on zebrafish physiology and experimentation and P. Wise and E. Wasson for expert technical assistance. The following agencies provided funding for this project: Genome Canada (M.E.S.), Genome Atlantic (M.E.S.), Nova Scotia Health Research Foundation (M.E.S.), Nova Scotia Research and Innovation Trust (M.E.S.), IWK Health Centre Foundation (M.E.S.), Dalhousie University (M.E.S.), Capital Health Research Fund (M.E.S.), Fonds de la Recherche en Santé de Québec (L.S.-A.), NIH K01 DK074410 (P.J.S.) and NIH R01 DK080011 (M.D.F.), The US Department of Veterans Affairs (S.S.B.), University of Oklahoma Health Sciences Center Provost’s Fund (S.S.B.), and the Oklahoma Center for Advancement of Science and Technology (S.S.B.).

ASJC Scopus Subject Areas

Genetics

PubMed: MeSH publication types

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.

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Guernsey, D. L., Jiang, H., Campagna, D. R., Evans, S. C., Ferguson, M., Kellogg, M. D., Lachance, M., Matsuoka, M., Nightingale, M., Rideout, A., Saint-Amant, L., Schmidt, P. J., Orr, A., Bottomley, S. S., Fleming, M. D., Ludman, M., Dyack, S., Fernandez, C. V., & Samuels, M. E. (2009). Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nature Genetics, 41(6), 651-653. https://doi.org/10.1038/ng.359

Guernsey, DL, Jiang, H, Campagna, DR, Evans, SC, Ferguson, M, Kellogg, MD, Lachance, M, Matsuoka, M, Nightingale, M, Rideout, A, Saint-Amant, L, Schmidt, PJ, Orr, A, Bottomley, SS, Fleming, MD, Ludman, M, Dyack, S, Fernandez, CV & Samuels, ME 2009, 'Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia', Nature Genetics, vol. 41, no. 6, pp. 651-653. https://doi.org/10.1038/ng.359

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abstract = "The sideroblastic anemias are a heterogeneous group of congenital and acquired hematological disorders whose morphological hallmark is the presence of ringed sideroblastsbone marrow erythroid precursors containing pathologic iron deposits within mitochondria. Here, by positional cloning, we define a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial carrier family protein SLC25A38, and demonstrate that SLC25A38 is important for the biosynthesis of heme in eukaryotes.",

author = "Guernsey, {Duane L.} and Haiyan Jiang and Campagna, {Dean R.} and Evans, {Susan C.} and Meghan Ferguson and Kellogg, {Mark D.} and Mathieu Lachance and Makoto Matsuoka and Mathew Nightingale and Andrea Rideout and Louis Saint-Amant and Schmidt, {Paul J.} and Andrew Orr and Bottomley, {Sylvia S.} and Fleming, {Mark D.} and Mark Ludman and Sarah Dyack and Fernandez, {Conrad V.} and Samuels, {Mark E.}",

note = "Funding Information: We gratefully acknowledge the participation of all the families with this genetic disorder. We thank P. Drapeau for advice on zebrafish physiology and experimentation and P. Wise and E. Wasson for expert technical assistance. The following agencies provided funding for this project: Genome Canada (M.E.S.), Genome Atlantic (M.E.S.), Nova Scotia Health Research Foundation (M.E.S.), Nova Scotia Research and Innovation Trust (M.E.S.), IWK Health Centre Foundation (M.E.S.), Dalhousie University (M.E.S.), Capital Health Research Fund (M.E.S.), Fonds de la Recherche en Sant{\'e} de Qu{\'e}bec (L.S.-A.), NIH K01 DK074410 (P.J.S.) and NIH R01 DK080011 (M.D.F.), The US Department of Veterans Affairs (S.S.B.), University of Oklahoma Health Sciences Center Provost{\textquoteright}s Fund (S.S.B.), and the Oklahoma Center for Advancement of Science and Technology (S.S.B.).",

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AU - Matsuoka, Makoto

AU - Nightingale, Mathew

AU - Rideout, Andrea

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AU - Orr, Andrew

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AU - Samuels, Mark E.

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Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Abstract

Bibliographical note

ASJC Scopus Subject Areas

PubMed: MeSH publication types

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