PMID- 10444331
OWN - NLM
STAT- MEDLINE
DCOM- 19991130
LR  - 20151119
IS  - 0888-7543 (Print)
IS  - 0888-7543 (Linking)
VI  - 59
IP  - 3
DP  - 1999 Aug 1
TI  - Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme 
      defective in patients with sarcosinemia.
PG  - 300-8
AB  - Sarcosine dehydrogenase is a liver mitochondrial matrix flavoenzyme that is
      defective in patients with sarcosinemia, a rare autosomal metabolic defect
      characterized by elevated levels of sarcosine in blood and urine. Some patients
      also exhibit mental retardation and growth failure. A full-length cDNA for human 
      sarcosine dehydrogenase was isolated from an adult liver cDNA library. The first 
      22 residues in the deduced amino acid sequence exhibit features expected for a
      mitochondrial targeting sequence. The predicted mass of the mature human liver
      sarcosine dehydrogenase (99,505 Da) is in good agreement with that observed for
      rat liver sarcosine dehydrogenase ( approximately 100,000 Da). Human sarcosine
      dehydrogenase exhibits 89% identity with rat liver sarcosine dehydrogenase and
      strong homology ( approximately 35% identity) with rat liver dimethylglycine
      dehydrogenase, a sarcosine dehydrogenase-related protein from Rhodobacter
      capsulatus, and the regulatory subunit from bovine pyruvate dehydrogenase
      phosphatase. The human sarcosine dehydrogenase gene is at least 75.3 kb long and 
      located on chromosome 9q34. The adult human liver clone is assembled from 21
      exons (1-6, 7a, 8a, 9-21). Two smaller cDNA clones, isolated from adult liver and
      infant brain libraries, were assembled from the same sarcosine dehydrogenase gene
      by the use of alternate polyadenylation and splice sites. This is the first
      report of the genomic structure of the sarcosine dehydrogenase gene in any
      species. The observed chromosomal location is consistent with genetic studies
      with a mouse model for sarcosinemia that map the mouse gene to a region of mouse 
      chromosome 2 syntenic with human 9q33-q34. The availability of the SDH gene
      sequence will enable characterization of the genotypes of sarcosinemia patients
      with different phenotypes.
CI  - Copyright 1999 Academic Press.
FAU - Eschenbrenner, M
AU  - Eschenbrenner M
AD  - Department of Biochemistry, MCP Hahnemann School of Medicine, Philadelphia,
      Pennsylvania 19129, USA.
FAU - Jorns, M S
AU  - Jorns MS
LA  - eng
SI  - GENBANK/AF095735
SI  - GENBANK/AF095736
SI  - GENBANK/AF095737
GR  - GM 31704/GM/NIGMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genomics
JT  - Genomics
JID - 8800135
RN  - 0 (DNA, Complementary)
RN  - EC 1.5.- (Oxidoreductases, N-Demethylating)
RN  - EC 1.5.8.3 (SARDH protein, human)
RN  - EC 1.5.8.3 (Sarcosine Dehydrogenase)
RN  - EC 1.5.8.3 (Sardh protein, mouse)
RN  - EC 1.5.8.3 (Sardh protein, rat)
RN  - Z711V88R5F (Sarcosine)
SB  - IM
MH  - Adult
MH  - Amino Acid Metabolism, Inborn Errors/*enzymology/genetics
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Blotting, Northern
MH  - Cattle
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 9
MH  - Cloning, Molecular
MH  - DNA, Complementary
MH  - Humans
MH  - Mice
MH  - Molecular Sequence Data
MH  - Oxidoreductases, N-Demethylating/*genetics
MH  - Rats
MH  - Sarcosine/*blood
MH  - Sarcosine Dehydrogenase
MH  - Sequence Homology, Amino Acid
EDAT- 1999/08/13 00:00
MHDA- 1999/08/13 00:01
CRDT- 1999/08/13 00:00
PHST- 1999/08/13 00:00 [pubmed]
PHST- 1999/08/13 00:01 [medline]
PHST- 1999/08/13 00:00 [entrez]
AID - 10.1006/geno.1999.5886 [doi]
AID - S088875439995886X [pii]
PST - ppublish
SO  - Genomics. 1999 Aug 1;59(3):300-8. doi: 10.1006/geno.1999.5886.