Phenol sulfotransferases: candidate genes for Batten disease.
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis; JNCL) is an autosomal recessive neurodegenerative disorder, characterized by the cytosomal accumulation of autofluorescent proteolipopigments in neurons and other cell types. The Batten disease gene (CLN3) has not yet been identified, but has been mapped to a small region of human chromosome area 16p12.1-p11.2. We recently reported the fortuitous discovery that the cytosolic phenol sulfotransferase gene (STP) is located within this same interval of chromosome 16p. Since phenol sulfotransferase is expressed in neurons, can sulfate lipophilic phenolic compounds, and is mapped near CLN3, STP is considered as a candidate gene for Batten disease. YAC and cosmid cloning results have further substantiated the close proximity of STP and a highly related sulfotransferase (STM), encoding the catecholamine-preferring enzyme, to the CLN3 region of chromosome 16p. In this report, we summarize some of the recent progress in the identification of two phenol sulfotransferase genes (STP and STM) as positional candidate genes for Batten disease.
Dooley
T P
TP
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX 78228, USA.
Probst
P
P
Obermoeller
R D
RD
Siciliano
M J
MJ
Doggett
N A
NA
Callen
D F
DF
Mitchison
H M
HM
Mole
S E
SE
D015239:Arylsulfotransferase / Q000235:genetics* / Q000378:metabolism; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002885:Chromosomes, Human, Pair 16; D003001:Cloning, Molecular; D003360:Cosmids; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000201:enzymology* / Q000235:genetics*
D015239:Arylsulfotransferase