Gene: [09q341/SURF1] surfeit 1 (mouse housekeeping gene homolog); Leigh syndrome (MIM:256000);


EAG

[1] In the murine genome, Surf-1 is identified within a cluster of six so called 'housekeeping' genes, which are not, however, structurally similar (Colombo-1992). Functions of three of them (having no introns) are not clear yet. SURF3 is the only intron-containing gene. It codes for the ribosomal protein L7a (GEM:09q341/RPL7A) (Giallongo-1989). The cluster is characterized by the fact that all the four genes are intensively expressed and are located exclusively close to each other: there are just several tens base pairs between them, instead of tens or hundreds kilobases, as is usually the case. The human homologues of these genes are identified provisionally, on the basis of analysis of hybridization with the corresponding murine DNA probes.
[2] In the murine genome, the Surf cluster is physically linked to abl protooncogene (Stubbs-1990) and to one of the morphogenetic genes (Hox-5). In the human genome, this cluster is also closely linked to the gene ABL (GEM:09q341/ABL1), however, the 'homeo box' genes are not currently revealed in this human chromosome (in contrast to murine Chr 2)."

REL

GEM:09q341/SURF2; GEM:09q341/RPL7A (SURF3); GEM:09q341/SURF5; GEM:09q341/SURF6.

REF

STR,MAP "Colombo P &: PNAS, 89, 6358-6362, 1992
FUN "Giallongo A &: Mol Cell Biol, 9, 224-231, 1989
CLO,SEQ,STR "Lennard A &: DNA Cell Biol, 13, 1117-1126, 1994
MOU,LIN,EAG "Stubbs L &: Genomics, 6, N4, 645-650, 1990
MUT "Tiranti V &: AJHG, 63, N6, 1609-1621, 1998
MOU,EAG,EVO "Williams T &: PNAS, 85, N10, 3527-3530, 1988
LOC,MAP "Yon J &: Hum Mol Genet, 2, 237-240, 1993
PRO,LOC,MOL,FAG "Yon J &: Ann Hum Genet, 53, 149-155, 1989
MUT "Zhu Z &: Nature Genet, 20, N4, 337-343, 1998

SWI

SWISSPROT: Q15526

KEY

trl

CLA

coding, basic

LOC

09 q34.1

MIM

MIM: 185620

鸯铗痂蝈 蜞赕:

  • Gene superfamily: homeo box proteins; (@CDX CHX10 CSX @DLX EMX1 EMX2 EN1 EN2 EVX1 EVX2 HLX1 HLXB9 HMX1 HMX2 HMX3 HOX11 HHEX @HOXA @HOXB @HOXC @HOXD ISL1 LMX1A LMX1B MEOX1 MEOX2 MSX1 MSX2 OTX1 OTX2 @PAX @PBX PMX1 PRHX)