ABSTRACT
We examined a panel of 21 patients diagnosed with compulsive buying for two DNA sequence polymorphisms found in the gene that encodes the serotonin transport (5-HTT). One polymorphism, found in the promoter region of the 5-HTT gene, involves a 44-base pair (bp) deletion, and the other, found in the second intron, is due to variable numbers of a repeat sequence. We also typed a panel of 38 psychiatrically normal controls for both 5-HH markers. When compared to this control panel, no significant differences were seen for either 5-HTT marker among the compulsive buyers.
Subject(s)
Carrier Proteins/genetics , Compulsive Behavior/genetics , Membrane Glycoproteins/genetics , Membrane Transport Proteins , Nerve Tissue Proteins , Polymorphism, Genetic , Alleles , Female , Genotype , Humans , Male , Serotonin Plasma Membrane Transport ProteinsABSTRACT
The D3-dopamine receptor gene, DRD3, has been considered as a candidate gene in several disorders in which the dopaminergic system has been implicated including Tourette syndrome and schizophrenia. The DRD3 studies to date have all used as the gene marker a Bal I polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). There have been recent reports on a second marker, an Msp I PCR RFLP, that lies 40 kb downstream. We have typed a sample of 16 Tourette syndrome families with both markers and observed significant linkage disequilibrium between the two markers but no apparent association of either marker with Tourette syndrome.
Subject(s)
Deoxyribonuclease HpaII/genetics , Deoxyribonucleases, Type II Site-Specific/genetics , Linkage Disequilibrium/genetics , Polymorphism, Restriction Fragment Length , Receptors, Dopamine D2/genetics , Tourette Syndrome/genetics , Female , Humans , Male , Receptors, Dopamine D3ABSTRACT
The nucleotide sequence and chromosomal localization of a human pseudogene is reported. Sequence data suggest that this pseudogene was derived via reverse transcription from the gene encoding the cytosolic isoform of the enzyme serine hydroxymethyltransferase. In addition, a heteroduplex analysis of this pseudogene among several species of nonhuman primate indicates a relatively high degree of sequence conservation.
Subject(s)
Conserved Sequence/genetics , Glycine Hydroxymethyltransferase/genetics , Pseudogenes/genetics , Animals , Base Sequence , Chromosome Mapping , Chromosomes, Human, Pair 1 , Cytosol , Humans , Molecular Sequence Data , Primates , Sequence Analysis, DNA , Sequence Homology, Nucleic AcidABSTRACT
A 42-kDa glycoprotein isolated from chicken brain, referred to as acetylcholine receptor-inducing activity (ARIA), that stimulates the rate of incorporation of acetylcholine receptors into the surface of chicken myotubes may play a role in the nerve-induced accumulation of receptors at developing neuromuscular synapses. Using nuclease-protection assays, we have found that ARIA causes a 2- to 16-fold increase in the level of mRNA encoding the alpha subunit of the receptor, with little or no change in the levels of gamma- and delta-subunit messengers. ARIA also increases the amount of a putative nuclear precursor of alpha-subunit mRNA, consistent with an activation of gene transcription. These results suggest that the concentration of alpha subunit may limit the rate of biosynthesis of the acetylcholine receptors in chicken myotubes. They also indicate that neuronal factors can regulate the expression of receptor subunit genes in a selective manner. Tetrodotoxin, 8-bromo-cAMP, and forskolin also increase the amount of alpha-subunit mRNA, with little change in the amount of gamma- and delta-subunit mRNAs. Unlike, ARIA, however, these agents have little effect on the concentration of the alpha-subunit nuclear precursor.
Subject(s)
Brain Chemistry , Glycoproteins/isolation & purification , RNA, Messenger/metabolism , Receptors, Cholinergic/metabolism , Animals , Chickens , Cyclic AMP/metabolism , Macromolecular Substances , Molecular Weight , Receptors, Cholinergic/genetics , Tetrodotoxin/pharmacologyABSTRACT
The serine hydroxymethyltransferase (SHMT) gene family is composed of three distinct loci. The cytosolic (cSHMT) and mitochondrial (mSHMT) genes constitute the functional members of the gene family, while the third member, SHMT-ps1, is a processed pseudogene descended from cSHMT. PCR analysis of 38 primate and nonprimate mammal species indicates that the reverse transcription event that gave rise to SHMT-ps1 might have occurred after the divergence of the primates from the rest of the mammals. In addition, direct sequencing of primate PCR products has revealed several features--including two deletions, an insertion, and two single base mutations--that are unique to specific phylogenetic branches of the order Primates. These unique features make the SHMT-ps1 locus a useful marker in molecular studies of the primates.