PMID- 7568099
OWN - NLM
STAT- MEDLINE
DCOM- 19951027
LR  - 20190501
IS  - 0027-8424 (Print)
IS  - 1091-6490 (Electronic)
IS  - 0027-8424 (Linking)
VI  - 92
IP  - 20
DP  - 1995 Sep 26
TI  - Down syndrome-critical region contains a gene homologous to Drosophila sim 
      expressed during rat and human central nervous system development.
PG  - 9191-5
AB  - Many features of Down syndrome might result from the overdosage of only a few 
      genes located in a critical region of chromosome 21. To search for these genes, 
      cosmids mapping in this region were isolated and used for trapping exons. One of 
      the trapped exons obtained has a sequence very similar to part of the Drosophila 
      single-minded (sim) gene, a master regulator of the early development of the fly 
      central nervous system midline. Mapping data indicated that this exonic sequence 
      is only present in the Down syndrome-critical region in the human genome. 
      Hybridization of this exonic sequence with human fetal kidney poly(A)+ RNA 
      revealed two transcripts of 6 and 4.3 kb. In situ hybridization of a probe 
      derived from this exon with human and rat fetuses showed that the corresponding 
      gene is expressed during early fetal life in the central nervous system and in 
      other tissues, including the facial, skull, palate, and vertebra primordia. The 
      expression pattern of this gene suggests that it might be involved in the 
      pathogenesis of some of the morphological features and brain anomalies observed 
      in Down syndrome.
FAU - Dahmane, N
AU  - Dahmane N
AD  - Unite de Recherche Associee 1335 Centre National de la Recherche Scientifique, 
      Hopital Necker, Paris, France.
FAU - Charron, G
AU  - Charron G
FAU - Lopes, C
AU  - Lopes C
FAU - Yaspo, M L
AU  - Yaspo ML
FAU - Maunoury, C
AU  - Maunoury C
FAU - Decorte, L
AU  - Decorte L
FAU - Sinet, P M
AU  - Sinet PM
FAU - Bloch, B
AU  - Bloch B
FAU - Delabar, J M
AU  - Delabar JM
LA  - eng
SI  - GENBANK/X84790
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Proc Natl Acad Sci U S A
JT  - Proceedings of the National Academy of Sciences of the United States of America
JID - 7505876
RN  - 0 (Basic Helix-Loop-Helix Transcription Factors)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Drosophila Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Oligonucleotide Probes)
RN  - 0 (RNA, Messenger)
RN  - 0 (sim protein, Drosophila)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Basic Helix-Loop-Helix Transcription Factors
MH  - Central Nervous System/*embryology
MH  - Chromosomes, Human, Pair 21
MH  - Cosmids
MH  - DNA-Binding Proteins/biosynthesis/*genetics
MH  - Down Syndrome/*genetics
MH  - Drosophila/embryology/*genetics
MH  - Drosophila Proteins
MH  - Embryonic and Fetal Development
MH  - Exons
MH  - *Gene Expression
MH  - *Genes, Insect
MH  - *Genes, Regulator
MH  - Genome, Human
MH  - Helix-Loop-Helix Motifs
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Kidney/embryology/metabolism
MH  - Molecular Sequence Data
MH  - Nuclear Proteins/biosynthesis/*genetics
MH  - Oligonucleotide Probes
MH  - Organ Specificity
MH  - RNA, Messenger/analysis/biosynthesis
MH  - Rats
MH  - Sequence Homology, Amino Acid
MH  - Sequence Homology, Nucleic Acid
MH  - Sequence Tagged Sites
PMC - PMC40950
EDAT- 1995/09/26 00:00
MHDA- 1995/09/26 00:01
PMCR- 1996/03/26
CRDT- 1995/09/26 00:00
PHST- 1995/09/26 00:00 [pubmed]
PHST- 1995/09/26 00:01 [medline]
PHST- 1995/09/26 00:00 [entrez]
PHST- 1996/03/26 00:00 [pmc-release]
AID - 10.1073/pnas.92.20.9191 [doi]
PST - ppublish
SO  - Proc Natl Acad Sci U S A. 1995 Sep 26;92(20):9191-5. doi: 
      10.1073/pnas.92.20.9191.