The human sideroflexin 5 (SFXN5) gene

Sequence, expression analysis and exclusion as a candidate for PARK3

Paul J. Lockhart, Benjamin Holtom, Sarah Lincoln, Jennifer Hussey, Alexander Zimprich, Thomas Gasser, Zbigniew K Wszolek, John Hardy, Matthew J. Farrer

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Parkinson's disease (PD) is a common neurodegenerative disorder with clinical features of bradykinesia, rigidity and resting tremor resulting from the deficiency of dopamine in the nigrostriatal system. Previously we mapped a susceptibility gene for an autosomal dominant form of PD to a 10.6 cM region of chromosome 2p (PARK3; OMIM 602404). Here we report the identification and characterization of the human sideroflexin 5 gene (SFXN5), which maps to the critical PARK3 region. Database analysis and 5′-RACE (rapid amplification of cDNA ends) identified a 4191 bp cDNA, encoding a predicted protein of 340 amino acids. The genomic sequence and structure of SFXN5 confirmed the cDNA sequence. Northern blot analysis revealed a single SFXN5 transcript of approximately 4.3 kb, which was primarily expressed in the brain. An examination of SFXN5 expression in specific regions of the human brain revealed high levels of expression in all regions analyzed. Sequence analysis of 2p13 linked individuals affected with PD did not reveal any potentially pathogenic mutations within SFXN5, suggesting SFXN5 does not correspond to PARK3.

Original languageEnglish (US)
Pages (from-to)229-237
Number of pages9
JournalGene
Volume285
Issue number1-2
DOIs
StatePublished - Feb 20 2002

Fingerprint

Sequence Analysis
Complementary DNA
Gene Expression
Parkinson Disease
Genetic Databases
Hypokinesia
Forensic Anthropology
Brain
Tremor
Neurodegenerative Diseases
Northern Blotting
Genes
Dopamine
Chromosomes
Databases
Amino Acids
Mutation
Proteins
Parkinson Disease, Familial, Type 1

Keywords

  • 2p13
  • cDNA sequence
  • Familial Parkinson disease
  • Genomic structure
  • Rapid amplification of cDNA ends

ASJC Scopus subject areas

  • Genetics

Cite this

Lockhart, P. J., Holtom, B., Lincoln, S., Hussey, J., Zimprich, A., Gasser, T., ... Farrer, M. J. (2002). The human sideroflexin 5 (SFXN5) gene: Sequence, expression analysis and exclusion as a candidate for PARK3. Gene, 285(1-2), 229-237. https://doi.org/10.1016/S0378-1119(02)00402-X

The human sideroflexin 5 (SFXN5) gene : Sequence, expression analysis and exclusion as a candidate for PARK3. / Lockhart, Paul J.; Holtom, Benjamin; Lincoln, Sarah; Hussey, Jennifer; Zimprich, Alexander; Gasser, Thomas; Wszolek, Zbigniew K; Hardy, John; Farrer, Matthew J.

In: Gene, Vol. 285, No. 1-2, 20.02.2002, p. 229-237.

Research output: Contribution to journalArticle

Lockhart, PJ, Holtom, B, Lincoln, S, Hussey, J, Zimprich, A, Gasser, T, Wszolek, ZK, Hardy, J & Farrer, MJ 2002, 'The human sideroflexin 5 (SFXN5) gene: Sequence, expression analysis and exclusion as a candidate for PARK3', Gene, vol. 285, no. 1-2, pp. 229-237. https://doi.org/10.1016/S0378-1119(02)00402-X
Lockhart PJ, Holtom B, Lincoln S, Hussey J, Zimprich A, Gasser T et al. The human sideroflexin 5 (SFXN5) gene: Sequence, expression analysis and exclusion as a candidate for PARK3. Gene. 2002 Feb 20;285(1-2):229-237. https://doi.org/10.1016/S0378-1119(02)00402-X
Lockhart, Paul J. ; Holtom, Benjamin ; Lincoln, Sarah ; Hussey, Jennifer ; Zimprich, Alexander ; Gasser, Thomas ; Wszolek, Zbigniew K ; Hardy, John ; Farrer, Matthew J. / The human sideroflexin 5 (SFXN5) gene : Sequence, expression analysis and exclusion as a candidate for PARK3. In: Gene. 2002 ; Vol. 285, No. 1-2. pp. 229-237.
@article{fe83e5b3ff874e8aa9c965decb8a389d,
title = "The human sideroflexin 5 (SFXN5) gene: Sequence, expression analysis and exclusion as a candidate for PARK3",
abstract = "Parkinson's disease (PD) is a common neurodegenerative disorder with clinical features of bradykinesia, rigidity and resting tremor resulting from the deficiency of dopamine in the nigrostriatal system. Previously we mapped a susceptibility gene for an autosomal dominant form of PD to a 10.6 cM region of chromosome 2p (PARK3; OMIM 602404). Here we report the identification and characterization of the human sideroflexin 5 gene (SFXN5), which maps to the critical PARK3 region. Database analysis and 5′-RACE (rapid amplification of cDNA ends) identified a 4191 bp cDNA, encoding a predicted protein of 340 amino acids. The genomic sequence and structure of SFXN5 confirmed the cDNA sequence. Northern blot analysis revealed a single SFXN5 transcript of approximately 4.3 kb, which was primarily expressed in the brain. An examination of SFXN5 expression in specific regions of the human brain revealed high levels of expression in all regions analyzed. Sequence analysis of 2p13 linked individuals affected with PD did not reveal any potentially pathogenic mutations within SFXN5, suggesting SFXN5 does not correspond to PARK3.",
keywords = "2p13, cDNA sequence, Familial Parkinson disease, Genomic structure, Rapid amplification of cDNA ends",
author = "Lockhart, {Paul J.} and Benjamin Holtom and Sarah Lincoln and Jennifer Hussey and Alexander Zimprich and Thomas Gasser and Wszolek, {Zbigniew K} and John Hardy and Farrer, {Matthew J.}",
year = "2002",
month = "2",
day = "20",
doi = "10.1016/S0378-1119(02)00402-X",
language = "English (US)",
volume = "285",
pages = "229--237",
journal = "Gene",
issn = "0378-1119",
publisher = "Elsevier",
number = "1-2",

}

TY - JOUR

T1 - The human sideroflexin 5 (SFXN5) gene

T2 - Sequence, expression analysis and exclusion as a candidate for PARK3

AU - Lockhart, Paul J.

AU - Holtom, Benjamin

AU - Lincoln, Sarah

AU - Hussey, Jennifer

AU - Zimprich, Alexander

AU - Gasser, Thomas

AU - Wszolek, Zbigniew K

AU - Hardy, John

AU - Farrer, Matthew J.

PY - 2002/2/20

Y1 - 2002/2/20

N2 - Parkinson's disease (PD) is a common neurodegenerative disorder with clinical features of bradykinesia, rigidity and resting tremor resulting from the deficiency of dopamine in the nigrostriatal system. Previously we mapped a susceptibility gene for an autosomal dominant form of PD to a 10.6 cM region of chromosome 2p (PARK3; OMIM 602404). Here we report the identification and characterization of the human sideroflexin 5 gene (SFXN5), which maps to the critical PARK3 region. Database analysis and 5′-RACE (rapid amplification of cDNA ends) identified a 4191 bp cDNA, encoding a predicted protein of 340 amino acids. The genomic sequence and structure of SFXN5 confirmed the cDNA sequence. Northern blot analysis revealed a single SFXN5 transcript of approximately 4.3 kb, which was primarily expressed in the brain. An examination of SFXN5 expression in specific regions of the human brain revealed high levels of expression in all regions analyzed. Sequence analysis of 2p13 linked individuals affected with PD did not reveal any potentially pathogenic mutations within SFXN5, suggesting SFXN5 does not correspond to PARK3.

AB - Parkinson's disease (PD) is a common neurodegenerative disorder with clinical features of bradykinesia, rigidity and resting tremor resulting from the deficiency of dopamine in the nigrostriatal system. Previously we mapped a susceptibility gene for an autosomal dominant form of PD to a 10.6 cM region of chromosome 2p (PARK3; OMIM 602404). Here we report the identification and characterization of the human sideroflexin 5 gene (SFXN5), which maps to the critical PARK3 region. Database analysis and 5′-RACE (rapid amplification of cDNA ends) identified a 4191 bp cDNA, encoding a predicted protein of 340 amino acids. The genomic sequence and structure of SFXN5 confirmed the cDNA sequence. Northern blot analysis revealed a single SFXN5 transcript of approximately 4.3 kb, which was primarily expressed in the brain. An examination of SFXN5 expression in specific regions of the human brain revealed high levels of expression in all regions analyzed. Sequence analysis of 2p13 linked individuals affected with PD did not reveal any potentially pathogenic mutations within SFXN5, suggesting SFXN5 does not correspond to PARK3.

KW - 2p13

KW - cDNA sequence

KW - Familial Parkinson disease

KW - Genomic structure

KW - Rapid amplification of cDNA ends

UR - http://www.scopus.com/inward/record.url?scp=0037138355&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037138355&partnerID=8YFLogxK

U2 - 10.1016/S0378-1119(02)00402-X

DO - 10.1016/S0378-1119(02)00402-X

M3 - Article

VL - 285

SP - 229

EP - 237

JO - Gene

JF - Gene

SN - 0378-1119

IS - 1-2

ER -