PMID- 10479723
OWN - NLM
STAT- MEDLINE
DCOM- 19990921
LR  - 20190702
IS  - 0027-5107 (Print)
IS  - 0027-5107 (Linking)
VI  - 406
IP  - 2-4
DP  - 1999 Aug
TI  - Human transcription factor SLUG: mutation analysis in patients with neural tube
      defects and identification of a missense mutation (D119E) in the Slug
      subfamily-defining region.
PG  - 63-9
AB  - Studies in mouse, chicken and Xenopus have shown that Slug is selectively
      expressed in the dorsal part of the developing neural tube. Ablation and
      antisense experiments in chicken suggest that Slug may be an important factor
      during neural tube closure. We therefore investigated the role of Slug as a
      possible candidate contributing to the aetiology of neural tube defects (NTD) in 
      humans. We characterised the genomic structure of human SLUG including
      determination of the exon-intron boundaries. The coding sequence of SLUG was
      screened for mutations in 150 patients with NTD using single strand conformation 
      analysis (SSCA). In one patient, we identified a missense mutation 1548C-->A in
      exon 2 causing an exchange of a conserved amino acid (D119E) in the Slug
      subfamily-defining region preceding the first zinc finger. This is the first
      description of a human mutation in the SLUG gene. In accordance with the findings
      in model organisms, the SLUG mutation may be causally related to the development 
      of NTD in our patient and could be considered as a predisposing factor.
FAU - Stegmann, K
AU  - Stegmann K
AD  - Medizinisches Zentrum fur Humangenetik der Philipps-Universitat Marburg,
      Bahnhofstrasse 7, D-35037, Marburg, Germany.
FAU - Boecker, J
AU  - Boecker J
FAU - Kosan, C
AU  - Kosan C
FAU - Ermert, A
AU  - Ermert A
FAU - Kunz, J
AU  - Kunz J
FAU - Koch, M C
AU  - Koch MC
LA  - eng
SI  - GENBANK/AF084243
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Mutat Res
JT  - Mutation research
JID - 0400763
RN  - 0 (SNAI1 protein, human)
RN  - 0 (Snai2 protein, mouse)
RN  - 0 (Snail Family Transcription Factors)
RN  - 0 (Transcription Factors)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Family Health
MH  - Female
MH  - Humans
MH  - Introns
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Mutation, Missense
MH  - Neural Tube Defects/*genetics
MH  - Pedigree
MH  - Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Sequence Analysis, DNA
MH  - Sequence Homology, Amino Acid
MH  - Snail Family Transcription Factors
MH  - Transcription Factors/*genetics
MH  - Transcription, Genetic
MH  - Zinc Fingers/genetics
EDAT- 1999/09/10 00:00
MHDA- 1999/09/10 00:01
CRDT- 1999/09/10 00:00
PHST- 1999/09/10 00:00 [pubmed]
PHST- 1999/09/10 00:01 [medline]
PHST- 1999/09/10 00:00 [entrez]
AID - S1383572699000023 [pii]
AID - 10.1016/s1383-5726(99)00002-3 [doi]
PST - ppublish
SO  - Mutat Res. 1999 Aug;406(2-4):63-9. doi: 10.1016/s1383-5726(99)00002-3.