Document Detail

Structure and expression of the variant melanin-concentrating hormone genes: only PMCHL1 is transcribed in the developing human brain and encodes a putative protein.
MedLine Citation:
PMID:  11070051     Owner:  NLM     Status:  MEDLINE    
PMCHL1 and PMCHL2 are two copies of the so-called variant melanin-concentrating hormone (MCH) gene that are located, respectively, on human chromosome 5p14 and 5q13 and that emerged recently during primate evolution. They correspond to a 5'-end truncated version of the MCH gene mapped on chromosome 12q23 and encoding a neuropeptide precursor. The gene organization and regulation of the expression of the variant MCH genes in the human brain are the central issues we investigated. First, the structure and fine chromosomal mapping of the 5p and 5q variant MCH genes were established. These revealed several point mutations and length variations of one CA/TA repeat which allow discrimination between each copy. Using a combination of RACE-PCR, RT-PCR, and sequencing analysis, we provided strong evidence for the expression of the PMCHL1 gene but not the PMCHL2 gene in the human fetal, newborn, and adult brains. Sense, potentially coding, RNAs, as well as noncoding antisense RNAs, were identified and displayed a region-specific expression in the human brain. Strikingly, sense unspliced RNAs of the PMCHL1 gene carried a novel open reading frame and may produce an NLS-containing protein of 8 kDa named VMCH-p8. These transcripts were translated in vitro and in transfected COS cells. Therefore, the PMCHL1 gene provides a unique example of the generation of a gene in the Hominoidae lineage which is specifically transcribed in the developing human brain and has the capacity to be translated into a putative novel protein.
A Viale; A Courseaux; F Presse; C Ortola; C Breton; D Jordan; J L Nahon
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Molecular biology and evolution     Volume:  17     ISSN:  0737-4038     ISO Abbreviation:  Mol. Biol. Evol.     Publication Date:  2000 Nov 
Date Detail:
Created Date:  2000-12-01     Completed Date:  2001-03-29     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8501455     Medline TA:  Mol Biol Evol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1626-40     Citation Subset:  IM    
Institut de Pharmacologie Moléculaire et Cellullaire, UPR 411 Centre National de la Recherche Scientifique, Valbonne, France.
Data Bank Information
Bank Name/Acc. No.:
PIR/AF238382;  AF238383
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MeSH Terms
Amino Acid Sequence
Base Sequence
Brain / embryology,  growth & development,  metabolism
CHO Cells
Chromosome Banding
Chromosome Mapping
Chromosomes, Human, Pair 5 / genetics
Contig Mapping
DNA / chemistry,  genetics
Evolution, Molecular
Gene Expression Regulation, Developmental
Genes / genetics*
Genetic Variation
Hybrid Cells
Hypothalamic Hormones / genetics*
Melanins / genetics*
Molecular Sequence Data
Pituitary Hormones / genetics*
Protein Isoforms / genetics
RNA / genetics,  metabolism
Sequence Alignment
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Sequence Homology, Nucleic Acid
Transcription, Genetic
Reg. No./Substance:
0/Hypothalamic Hormones; 0/Melanins; 0/Pituitary Hormones; 0/Protein Isoforms; 63231-63-0/RNA; 67382-96-1/melanin-concentrating hormone; 9007-49-2/DNA

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