[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
DOI=10.1093/nar/18.23.7187; PubMed=2263504 [NCBI, ExPASy, EBI, Israel, Japan]
Bishop D.F.;
"Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes.";
Nucleic Acids Res. 18:7187-7188(1990).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
PubMed=2050125 [NCBI, ExPASy, EBI, Israel, Japan]
Cox T.C.,
Bawden M.J.,
Martin A.,
May B.K.;
"Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA.";
EMBO J. 10:1891-1902(1991).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1074/jbc.273.27.16798; PubMed=9642238 [NCBI, ExPASy, EBI, Israel, Japan]
Surinya K.H.,
Cox T.C.,
May B.K.;
"Identification and characterization of a conserved erythroid-specific enhancer located in intron 8 of the human 5-aminolevulinate synthase 2 gene.";
J. Biol. Chem. 273:16798-16809(1998).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03440; PubMed=15772651 [NCBI, ExPASy, EBI, Israel, Japan]
Ross M.T.,
Grafham D.V.,
Coffey A.J.,
Scherer S.,
McLay K.,
Muzny D.,
Platzer M.,
Howell G.R.,
Burrows C.,
Bird C.P.,
Frankish A.,
Lovell F.L.,
Howe K.L.,
Ashurst J.L.,
Fulton R.S.,
Sudbrak R.,
Wen G.,
Jones M.C.,
Hurles M.E., ![]()
Andrews T.D.,
Scott C.E.,
Searle S.,
Ramser J.,
Whittaker A.,
Deadman R.,
Carter N.P.,
Hunt S.E.,
Chen R.,
Cree A.,
Gunaratne P.,
Havlak P.,
Hodgson A.,
Metzker M.L.,
Richards S.,
Scott G.,
Steffen D.,
Sodergren E.,
Wheeler D.A.,
Worley K.C.,
Ainscough R.,
Ambrose K.D.,
Ansari-Lari M.A.,
Aradhya S.,
Ashwell R.I.,
Babbage A.K.,
Bagguley C.L.,
Ballabio A.,
Banerjee R.,
Barker G.E.,
Barlow K.F.,
Barrett I.P.,
Bates K.N.,
Beare D.M.,
Beasley H.,
Beasley O.,
Beck A.,
Bethel G.,
Blechschmidt K.,
Brady N.,
Bray-Allen S.,
Bridgeman A.M.,
Brown A.J.,
Brown M.J.,
Bonnin D.,
Bruford E.A.,
Buhay C.,
Burch P.,
Burford D.,
Burgess J.,
Burrill W.,
Burton J.,
Bye J.M.,
Carder C.,
Carrel L.,
Chako J.,
Chapman J.C.,
Chavez D.,
Chen E.,
Chen G.,
Chen Y.,
Chen Z.,
Chinault C.,
Ciccodicola A.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Clerc-Blankenburg K.,
Clifford K.,
Cobley V.,
Cole C.G.,
Conquer J.S.,
Corby N.,
Connor R.E.,
David R.,
Davies J.,
Davis C.,
Davis J.,
Delgado O.,
Deshazo D.,
Dhami P.,
Ding Y.,
Dinh H.,
Dodsworth S.,
Draper H.,
Dugan-Rocha S.,
Dunham A.,
Dunn M.,
Durbin K.J.,
Dutta I.,
Eades T.,
Ellwood M.,
Emery-Cohen A.,
Errington H.,
Evans K.L.,
Faulkner L.,
Francis F.,
Frankland J.,
Fraser A.E.,
Galgoczy P.,
Gilbert J.,
Gill R.,
Gloeckner G.,
Gregory S.G.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gu Y.,
Gwilliam R.,
Hamilton C.,
Hart E.A.,
Hawes A.,
Heath P.D.,
Heitmann K.,
Hennig S.,
Hernandez J.,
Hinzmann B.,
Ho S.,
Hoffs M.,
Howden P.J.,
Huckle E.J.,
Hume J.,
Hunt P.J.,
Hunt A.R.,
Isherwood J.,
Jacob L.,
Johnson D.,
Jones S.,
de Jong P.J.,
Joseph S.S.,
Keenan S.,
Kelly S.,
Kershaw J.K.,
Khan Z.,
Kioschis P.,
Klages S.,
Knights A.J.,
Kosiura A.,
Kovar-Smith C.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leversha M.,
Lewis L.,
Liu W.,
Lloyd C.,
Lloyd D.M.,
Loulseged H.,
Loveland J.E.,
Lovell J.D.,
Lozado R.,
Lu J.,
Lyne R.,
Ma J.,
Maheshwari M.,
Matthews L.H.,
McDowall J.,
McLaren S.,
McMurray A.,
Meidl P.,
Meitinger T.,
Milne S.,
Miner G.,
Mistry S.L.,
Morgan M.,
Morris S.,
Mueller I.,
Mullikin J.C.,
Nguyen N.,
Nordsiek G.,
Nyakatura G.,
O'dell C.N.,
Okwuonu G.,
Palmer S.,
Pandian R.,
Parker D.,
Parrish J.,
Pasternak S.,
Patel D.,
Pearce A.V.,
Pearson D.M.,
Pelan S.E.,
Perez L.,
Porter K.M.,
Ramsey Y.,
Reichwald K.,
Rhodes S.,
Ridler K.A.,
Schlessinger D.,
Schueler M.G.,
Sehra H.K.,
Shaw-Smith C.,
Shen H.,
Sheridan E.M.,
Shownkeen R.,
Skuce C.D.,
Smith M.L.,
Sotheran E.C.,
Steingruber H.E.,
Steward C.A.,
Storey R.,
Swann R.M.,
Swarbreck D.,
Tabor P.E.,
Taudien S.,
Taylor T.,
Teague B.,
Thomas K.,
Thorpe A.,
Timms K.,
Tracey A.,
Trevanion S.,
Tromans A.C.,
d'Urso M.,
Verduzco D.,
Villasana D.,
Waldron L.,
Wall M.,
Wang Q.,
Warren J.,
Warry G.L.,
Wei X.,
West A.,
Whitehead S.L.,
Whiteley M.N.,
Wilkinson J.E.,
Willey D.L.,
Williams G.,
Williams L.,
Williamson A.,
Williamson H.,
Wilming L.,
Woodmansey R.L.,
Wray P.W.,
Yen J.,
Zhang J.,
Zhou J.,
Zoghbi H.,
Zorilla S.,
Buck D.,
Reinhardt R.,
Poustka A.,
Rosenthal A.,
Lehrach H.,
Meindl A.,
Minx P.J.,
Hillier L.W.,
Willard H.F.,
Wilson R.K.,
Waterston R.H.,
Rice C.M.,
Vaudin M.,
Coulson A.,
Nelson D.L.,
Weinstock G.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Gibbs R.A.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
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[5]
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VARIANT XLSA SER-388.
DOI=10.1056/NEJM199403103301004; PubMed=8107717 [NCBI, ExPASy, EBI, Israel, Japan]
Cox T.C.,
Bottomley S.S.,
Wiley J.S.,
Bawden M.J.,
Matthews C.S.,
May B.K.;
"X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.";
N. Engl. J. Med. 330:675-679(1994).
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[6]
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VARIANT XLSA ASN-476.
PubMed=1570328 [NCBI, ExPASy, EBI, Israel, Japan]
Cotter P.D.,
Baumann M.,
Bishop D.F.;
"Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.";
Proc. Natl. Acad. Sci. U.S.A. 89:4028-4032(1992).
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[7]
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VARIANT XLSA CYS-411.
DOI=10.1046/j.1365-2141.1998.01050.x; PubMed=9858242 [NCBI, ExPASy, EBI, Israel, Japan]
Furuyama K.,
Uno R.,
Urabe A.,
Hayashi N.,
Fujita H.,
Kondo M.,
Sassa S.,
Yamamoto M.;
"R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.";
Br. J. Haematol. 103:839-841(1998).
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[8]
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VARIANT XLSA GLN-204.
PubMed=10577279 [NCBI, ExPASy, EBI, Israel, Japan]
Harigae H.,
Furuyama K.,
Kudo K.,
Hayashi N.,
Yamamoto M.,
Sassa S.,
Sasaki T.;
"A novel mutation of the erythroid-specific gamma-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.";
Am. J. Hematol. 62:112-114(1999).
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[9]
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VARIANTS XLSA HIS-199; CYS-411; GLN-448 AND CYS-452.
PubMed=10029606 [NCBI, ExPASy, EBI, Israel, Japan]
Cotter P.D.,
May A.,
Li L.,
Al-Sabah A.I.,
Fitzsimons E.J.,
Cazzola M.,
Bishop D.F.;
"Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.";
Blood 93:1757-1769(1999).
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[10]
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VARIANT XLSA HIS-560.
DOI=10.1182/blood-2002-03-0685; PubMed=12393718 [NCBI, ExPASy, EBI, Israel, Japan]
Cazzola M.,
May A.,
Bergamaschi G.,
Cerani P.,
Ferrillo S.,
Bishop D.F.;
"Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.";
Blood 100:4236-4238(2002).
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[11]
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VARIANT XLSA TYR-159.
DOI=10.1016/S0009-8981(02)00095-5; PubMed=12031592 [NCBI, ExPASy, EBI, Israel, Japan]
Hurford M.T.,
Marshall-Taylor C.,
Vicki S.L.,
Zhou J.Z.,
Silverman L.M.,
Rezuke W.N.,
Altman A.,
Tsongalis G.J.;
"A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.";
Clin. Chim. Acta 321:49-53(2002).
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