Gene: [08p23/DEFA1] defensin, alpha 1 and 3 (myeloid-related sequence, neutrophil specific); [MRS HNP1 ]
COM | There is a conflicting report localizing DEF1 to a different region of the chromosome 8 (Mars-1988)." |
HIS | As for the mapping of DEF-like (MRS-like) sequences in the human genome, the following should be noted. HGM10, with reference to Sparkes-1989, localized the gene DEF1 in 8p23, in place of the marker MRS (expressed in myelocytes), the latter being excluded from the catalogue (as well as from the MIM-90 Catalogue). However, MRS had been mapped previously in subsegment 8q2 with the use of both in situ hybridization on chromosomes of the gene-specific DNA probe and blot hybridization of DNA from cultured hybrid cells containing fragments of human chromosome 8, excepting the terminal one-third of the long arm (Mars-1988). These data have not been disproved till now. The mistake is accounted for by the imprecise designation of the hybrid cell strain in the report of Mars-1988 as <8q->, that was understood as a complete absence of the long arm, though only a terminal part of the arm was actually deleted (because of its translocation onto chromosome 21; the sample was taken from a patient with acute nonlymphocytic leukemia and rearrangement t<8pter-8q22::21q22.3-21qter>). Therefore, the location of MRS in segment 8q2 is by no means ruled out. Bearing in mind that at least three types (HNP-1/2/3) of neutrophil peptides differring in their N-terminals are currently known (Selsted-1985), one may assume that a defensin-like gene is really located in 8q2." |
REL | GEM:08p23/DEFA4; GEM:08p2/DEFA5; GEM:08p2/DEFA6; GEM:08p23/DEFB1. |
REF | COD,SEQ,EXP,FAG "Daher
KA &: PNAS, 85, N19, 7327-7331, 1988 SEQ,GEN,FAG "Linzmeier R &: FEBS Lett, 321, 267-273, 1993a SEQ,GEN,FAG "Linzmeier R &: FEBS Lett, 326, (Erratum), 299-300, 1993b LOC "Liu L &: Genomics, 43, N3, 316-320, 1997 COD,SEQ,LOC,MOL,CYG,PAT,MEB "Mars WM &: Blood, 71, N5, 1713-1719, 1988 LOC,MOL,PRO "Mars WM &: AJHG, 41, A176, 1987 CLO,COD,EXP "Mars WM &: Blood, 65, 1218, 1985 STR,MOP "Pardi A &: Biochemistry, 31, 11357-11364, 1992 IDN,PEP,SEQ,MEB "Selsted ME &: J Clin Invest, 76, 1436-1439, 1985 LOC,MOL,PRO,FAG "Sparkes RS &: Genomics, 5, 240-244, 1989 PTM "Valore EV, Ganz T: Blood, 79, 1538-1544, 1992 COD,SEQ,EXP,FAG "Wiedemann LM &: Leukemia, 3, N3, 227-234, 1989 STR,MOP "Zhang X-L &: Biochemistry, 31, 11348-11356, 1992 |
SWI | SWISSPROT: P11479 |
KEY | imm, hem, onc |
CLA | coding, basic |
LOC | 08 p23 |
MIM | MIM: 125220 |
SYN | MRS HNP1 |
