Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia.
We describe the structure, genomic organization, and some transcription features of a human brain-specific gene previously localized to the genomic region involved in temporal lobe epilepsy and spastic paraplegia on chromosome 10q24. The gene, which consists of six exons disseminated over 16 kb of genomic DNA, is highly homologous to the porcine tmp83.5 gene and encodes a putative transmembrane protein of 141 amino acids. Unlike its porcine homolog, from which two mRNAs with different 5'-sequences are transcribed, the human gene apparently encodes three mRNA species with 3'-untranslated regions of different sizes. Mutation analysis of its coding sequence in families affected with temporal lobe epilepsy or spastic paraplegia linked to 10q24 do not support the involvement of this gene in either diseases.
Nobile
C
C
CNR-Centro di Studio per la Biologia e Fisiopatologia Muscolare, Dipartimento di Scienze Biomediche Sperimentali, Viale G. Colombo 3, 35121 Padova, Italy. carlo@telethon.bio.unipd.it
Hinzmann
B
B
Scannapieco
P
P
Siebert
R
R
Zimbello
R
R
Perez-Tur
J
J
Sarafidou
T
T
Moschonas
N K
NK
French
L
L
Deloukas
P
P
Ciccodicola
A
A
Gesk
S
S
Poza
J J
JJ
Lo Nigro
C
C
Seri
M
M
Schlegelberger
B
B
Rosenthal
A
A
Valle
G
G
Lopez de Munain
A
A
Tassinari
C A
CA
Michelucci
R
R
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism*; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005091:Exons; D015870:Gene Expression; D005796:Genes / Q000235:genetics; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics* / Q000302:isolation & purification*; D008969:Molecular Sequence Data; D009154:Mutation; D009185:Myelin Proteins; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000302:isolation & purification*; D010264:Paraplegia / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D013552:Swine
D018076:DNA, Complementary; D008565:Membrane Proteins; D009185:Myelin Proteins; D009419:Nerve Tissue Proteins; C524020:OPALIN protein, human