PMID- 10391221
OWN - NLM
STAT- MEDLINE
DCOM- 19990719
LR  - 20131121
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 3
DP  - 1999 Jul
TI  - Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated
      with diabetes mellitus and deafness.
PG  - 300-4
AB  - Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, 
      is an early onset, autosomal recessive disorder defined by the occurrence of
      megaloblastic anaemia, diabetes mellitus and sensorineural deafness, responding
      in varying degrees to thiamine treatment (MIM 249270). We have previously
      narrowed the TRMA locus from a 16-cM to a 4-cM interval on chromosomal region
      1q23.3 (refs 3,4) and this region has been further refined to a 1.4-cM interval. 
      Previous studies have suggested that deficiency in a high-affinity thiamine
      transporter may cause this disorder. Here we identify the TRMA gene by positional
      cloning. We assembled a P1-derived artificial chromosome (PAC) contig spanning
      the TRMA candidate region. This clarified the order of genetic markers across the
      TRMA locus, provided 9 new polymorphic markers and narrowed the locus to an
      approximately 400-kb region. Mutations in a new gene, SLC19A2, encoding a
      putative transmembrane protein homologous to the reduced folate carrier proteins,
      were found in all affected individuals in six TRMA families, suggesting that a
      defective thiamine transporter protein (THTR-1) may underlie the TRMA syndrome.
FAU - Labay, V
AU  - Labay V
AD  - Department of Genetics, Tamkin Human Molecular Genetics Research Facility,
      Technion-Israel Institute of Technology, Bruce Rappaport Faculty of Medicine,
      Haifa.
FAU - Raz, T
AU  - Raz T
FAU - Baron, D
AU  - Baron D
FAU - Mandel, H
AU  - Mandel H
FAU - Williams, H
AU  - Williams H
FAU - Barrett, T
AU  - Barrett T
FAU - Szargel, R
AU  - Szargel R
FAU - McDonald, L
AU  - McDonald L
FAU - Shalata, A
AU  - Shalata A
FAU - Nosaka, K
AU  - Nosaka K
FAU - Gregory, S
AU  - Gregory S
FAU - Cohen, N
AU  - Cohen N
LA  - eng
SI  - GENBANK/AJ237724
SI  - GENBANK/AJ238413
SI  - GENBANK/AL021068
SI  - SWISSPROT/P41438
SI  - SWISSPROT/P41440
SI  - SWISSPROT/P42557
GR  - Wellcome Trust/United Kingdom
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA Primers)
RN  - 0 (Genetic Markers)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (SLC19A2 protein, human)
RN  - 0 (Slc19a2 protein, mouse)
RN  - 9007-49-2 (DNA)
RN  - X66NSO3N35 (Thiamine)
SB  - IM
MH  - Amino Acid Sequence
MH  - Anemia, Megaloblastic/complications/drug therapy/*genetics
MH  - Animals
MH  - Base Sequence
MH  - Carrier Proteins/genetics
MH  - Cricetinae
MH  - DNA/genetics
MH  - DNA Primers/genetics
MH  - Deafness/complications/*genetics
MH  - Diabetes Complications
MH  - Diabetes Mellitus/*genetics
MH  - Female
MH  - Genes, Recessive
MH  - Genetic Markers
MH  - Humans
MH  - Male
MH  - *Membrane Transport Proteins
MH  - Mice
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Physical Chromosome Mapping
MH  - Sequence Homology, Amino Acid
MH  - Syndrome
MH  - Thiamine/metabolism/therapeutic use
EDAT- 1999/07/03 10:00
MHDA- 2001/03/23 10:01
CRDT- 1999/07/03 10:00
PHST- 1999/07/03 10:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/07/03 10:00 [entrez]
AID - 10.1038/10372 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Jul;22(3):300-4. doi: 10.1038/10372.