Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a notch homolog, human counterpart of mouse mammary tumor gene int-3.
Cosmid walking of about 250 kb from MHC class III gene CYP21 to class II was conducted. The gene for receptor of advanced glycosylation end products of proteins (RAGE, a member of immunoglobulin superfamily molecules), the PBX2 homeobox gene designated HOX12, and the human counterpart of the mouse mammary tumor gene int-3 were found. The contiguous RAGE and HOX12 genes were completely sequenced, and the human int-3 counterpart was partially sequenced and assigned to a Notch homolog. This human Notch homolog, designated NOTCH3, showed both the intracellular portion present in the mouse int-3 sequence and the extracellular portion absent in the int-3. It thus corresponds to the intact form of a Notch-type transmembrane protein. About 20 kb of dense Alu clustering was found just centromeric to the NOTCH3.
Department of Evolutionary Genetics, National Institute of Genetics, Shizuoka-ken, Japan.
K
K
Sugaya
T
T
Fukagawa
K
K
Matsumoto
K
K
Mita
E
E
Takahashi
A
A
Ando
H
H
Inoko
T
T
Ikemura
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D002874:Chromosome Mapping; D016386:Chromosome Walking; D018244:Chromosomes, Artificial, Yeast; D003360:Cosmids; D004247:DNA / Q000235:genetics; D005091:Exons; D005801:Genes, Homeobox; D005802:Genes, MHC Class II; D017127:Glycation End Products, Advanced / Q000378:metabolism; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D008285:Major Histocompatibility Complex; D008324:Mammary Tumor Virus, Mouse / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D011518:Proto-Oncogene Proteins / Q000235:genetics; D000067759:Receptor for Advanced Glycation End Products; D000071656:Receptor, Notch3; D000074562:Receptor, Notch4; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic / Q000235:genetics; D051880:Receptors, Notch; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid
D017127:Glycation End Products, Advanced; D018398:Homeodomain Proteins; D008565:Membrane Proteins; C499374:NOTCH3 protein, human; C499373:Notch3 protein, mouse; C090465:PBX2 protein, human; C490382:Pbx2 protein, mouse; D011518:Proto-Oncogene Proteins; D000067759:Receptor for Advanced Glycation End Products; D000071656:Receptor, Notch3; D000074562:Receptor, Notch4; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; D051880:Receptors, Notch; C073572:Notch4 protein, mouse; D004247:DNA