Gene: [05q1/DHFR] dihydrofolate reductase; megaloblastic anemia (dihydrofolate reductase deficiency);

COM

Two series of studies (both are convincing) have given incompatible results concerning the regional location of the DHFR gene: using hybridization of the genomic DNA from somatic hybrid cells carrying different portions of human chr 5 (and direct in situ hybridization), Anagnou-1988 as well as Funanage-1984 assigned DHFR to q11.1-13.2 (at least not distal than q22). However, using hybridization with cells carrying several 5q deletions, Maurer-1985 located the DHFR on subsegment 5q23. One of the DHFR pseudogenes seems to be located in this region."

GEN

The gene length: 30 kb. Exons: 6. Introns: 5 (the length is in the range from 362 to 12 kb). The major mRNA size is 3.8 kb, minor mRNAs are 0.8 and 1.0 kb."

FUN

Systematic name: 5,6,7,8-tetrahydrofolate:NADP+ oxidoreductase. The reaction catalyzed: 5,6,7,8-tetrahydrofolate + NADP+ = 7,8-dihydrofolate + NADPH."

FAG

The GDB and HGM catalogues registered three mapped DHFR pseudogenes: GEM:18q121/DHFRP1, GEM:06^/DHFRP2, and GEM:03^/DHFRP4. However, at least two more DHFR-like sequences possibly exist in human genome: GEM:10q/DHFRL1 (Wolman-1983; Meltzer-1985) and GEM:05q23/DHFRL2 (Maurer-1984,1985)."

FOG

The megaloblastic anemia inheritance mode: autosomal dominant.

REF

LOC,FAG,POL "Anagnou &: AJHG, 42, 345-352, 1988
LOC,FAG,POL "Anagnou &: NAR, 15, 5501, 1987
LOC,FAG,POL "Anagnou &: CCG, 40, (HGM8), 568, 1985
LOC,FAG,POL "Anagnou &: PNAS, 81, (Aug), 5170-5174, 1984
PRO,GEN,SEQ,EXP,EVO "Chen MJ &: JBC, 259, N6, 3933-3943, 1984
PRO,GEN,SEQ,EXP,EVO "Chen MJ &: PNAS, 79, (Dec), 7435-7439, 1982
PAT,PHE "Erbe RW: New Engl J Med, 293, 753-757, 1975a
PAT,PHE "Erbe RW: New Engl J Med, 293, 807-812, 1975b
LOC,FAG,POL "Feder JN &: NAR, 15, N14, 5906, 1987
LOC,FAG,POL "Funanage VL &: Mol Cell Biol, 4, N10, 2010-2016, 1984
MAP,LIN,CYG "Gilliam TC &: Genomics, 5, 940-944, 1989
GEN,STR,EXP "Masters JN, Attardi: Mol Cell Biol, 5, N3, 493-500, 1985
PRO,SEQ,EVO "Masters JN, Attardi: Gene, 21, 59-63, 1983
GEN,STR,EXP "Maurer BJ &: Nature, 327, (4 Jun), 434-437, 1987
LOC,FAG,POL "Maurer BJ &: Somat Cell Mol Genet, 11, N1, 79-85, 1985
LOC,FAG,POL "Maurer BJ &: PNAS, 81, (Mar), 1484-1488, 1984
LOC,FAG,POL "Meltzer &: Cancer Genet Cytogenet, 17, 289-300, 1985
GEN,STR,EXP "Shimada &: JBC, 261, N2, 1445-1452, 1986
GEN,STR,EXP "Shimada, Nienhuis: JBC, 260, N4, 2468-2474, 1985
LOC,FAG,POL "Shimada &: Clin Res, 31, 479A, 1983
LOC,FAG,POL "Srimatkandada &: Biochemistry, 22, 5774-5781, 1983
PAT,PHE "Tauro &: New Engl J Med, 294, 466-470, 1976
LOC,FAG,POL "Wolman SR &: PNAS, 80, (Feb), 807-809, 1983
PRO,GEN,SEQ,EXP,EVO "Yang JK &: J Mol Biol, 176, 169-187, 1984

SWI

 SWISSPROT: P00374

KEY

hem, horm

CLA

coding, basic

LOC

05 q11.2-13.2

MIM

 MIM: 126060

EZN

 ENZYME: 1.5.1.3

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