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

C. Nobile, B. Hinzmann, P. Scannapieco, R. Siebert, R. Zimbello, J. Perez-Tur, T. Sarafidou, N. K. Moschonas, L. French, P. Deloukas, A. Ciccodicola, S. Gesk, J. J. Poza, C. Lo Nigro, M. Seri, B. Schlegelberger, A. Rosenthal, G. Valle, A. Lopez De Munain, C. A. TassinariR. Michelucci

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)87-94
Number of pages8
JournalGene
Volume282
Issue number1-2
DOIs
Publication statusPublished - Jan 9 2002

Fingerprint

Temporal Lobe Epilepsy
Paraplegia
Chromosomes
Brain
Genes
Swine
Messenger RNA
3' Untranslated Regions
Exons
Amino Acids
Mutation
DNA
Proteins

Keywords

  • Brain expression
  • Conserved gene
  • Partial epilepsy
  • Transmembrane domain

ASJC Scopus subject areas

  • Genetics

Cite this

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. / Nobile, C.; Hinzmann, B.; Scannapieco, P.; Siebert, R.; Zimbello, R.; Perez-Tur, J.; Sarafidou, T.; Moschonas, N. K.; French, L.; Deloukas, P.; Ciccodicola, A.; Gesk, S.; Poza, J. J.; Lo Nigro, C.; Seri, M.; Schlegelberger, B.; Rosenthal, A.; Valle, G.; De Munain, A. Lopez; Tassinari, C. A.; Michelucci, R.

In: Gene, Vol. 282, No. 1-2, 09.01.2002, p. 87-94.

Research output: Contribution to journalArticle

Nobile, C, Hinzmann, B, Scannapieco, P, Siebert, R, Zimbello, R, Perez-Tur, J, Sarafidou, T, Moschonas, NK, French, L, Deloukas, P, Ciccodicola, A, Gesk, S, Poza, JJ, Lo Nigro, C, Seri, M, Schlegelberger, B, Rosenthal, A, Valle, G, De Munain, AL, Tassinari, CA & Michelucci, R 2002, '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', Gene, vol. 282, no. 1-2, pp. 87-94. https://doi.org/10.1016/S0378-1119(01)00846-0
Nobile, C. ; Hinzmann, B. ; Scannapieco, P. ; Siebert, R. ; Zimbello, R. ; Perez-Tur, J. ; Sarafidou, T. ; Moschonas, N. K. ; French, L. ; Deloukas, P. ; Ciccodicola, A. ; Gesk, S. ; Poza, J. J. ; Lo Nigro, C. ; Seri, M. ; Schlegelberger, B. ; Rosenthal, A. ; Valle, G. ; De Munain, A. Lopez ; Tassinari, C. A. ; Michelucci, R. / 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. In: Gene. 2002 ; Vol. 282, No. 1-2. pp. 87-94.
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AU - Scannapieco, P.

AU - Siebert, R.

AU - Zimbello, R.

AU - Perez-Tur, J.

AU - Sarafidou, T.

AU - Moschonas, N. K.

AU - French, L.

AU - Deloukas, P.

AU - Ciccodicola, A.

AU - Gesk, S.

AU - Poza, J. J.

AU - Lo Nigro, C.

AU - Seri, M.

AU - Schlegelberger, B.

AU - Rosenthal, A.

AU - Valle, G.

AU - De Munain, A. Lopez

AU - Tassinari, C. A.

AU - Michelucci, R.

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