New minC mutations suggest different interactions of the same region of division inhibitor MinC with proteins specific for minD and dicB coinhibition pathways
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Abstract:
Proper positioning of division sites in Escherichia coli requires balanced expression of minC, minD, and minE gene products. Previous genetic analysis has shown that either MinD or an apparently unrelated protein, DicB, cooperates with MinC to inhibit division. We have isolated and sequenced minC mutations that suppress division inhibition caused by overproduction of either DicB or MinD proteins. Most missense mutations were located in the amino acid 160 to 200 region of MinC (231 amino acids). Some mutations exhibited preferential resistance to one or the other coinhibitor, suggesting that two distinct proteins, possibly MinD and DicB themselves, interact in slightly different manners with the same region of MinC to promote division inhibition.Keywords:
FtsZ
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
Recently the gene responsible for Pendred syndrome (PDS) was isolated and several mutations in the PDS gene have been identified in Pendred patients. Here we report the occurrence of two different PDS mutations in an extended inbred Turkish family. The majority of patients in this family are homozygous for a splice site mutation (1143-2A-->G) affecting the 3' splice site consensus sequence of intron 7. However, two affected sibs with non-consanguineous parents are compound heterozygotes for the splice site mutation and a missense mutation (1558T-->G), substituting an evolutionarily conserved amino acid. The latter mutation has been found previously in two Pendred families originating from The Netherlands, indicating that the 1558T-->G mutation may be a common mutation.
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splice
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The ftsZ gene encodes an essential cell division protein that specifically localizes to the septum of dividing cells. In this study we characterized the effects of the ftsZ2(Rsa) mutation on cell physiology. We found that this mutation caused an altered cell morphology that included minicell formation and an increased average cell length. In addition, this mutation caused a temperature-dependent effect on cell lysis. During this investigation we fortuitously isolated a novel temperature-sensitive ftsZ mutation that consisted of a 6-codon insertion near the 5' end of the gene. This mutation, designated ftsZ26(Ts), caused an altered polar morphology at the permissive temperature and blocked cell division at the nonpermissive temperature. The altered polar morphology resulted from cell division and correlated with an altered geometry of the FtsZ ring. An intragenic cold-sensitive suppressor of ftsZ26(Ts) that caused cell lysis at the nonpermissive temperature was isolated. These results support the hypothesis that the FtsZ ring determines the division site and interacts with the septal biosynthetic machinery.
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Familial hemiplegic migraine
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Objective To identify SCN9A gene mutation in a family with severe primary erythermalgia.Methods Clinical data of family were collected and the encoding exons and their flanking sequences of SCN9A gene were amplified and sequenced from genomic DNA samples.Results A heterozygous c.1185C→G was found in exon 9 of the proband,which resulted in N395K amino acid substitution.The mutation was not detected in the proband's healthy mother or 50 unrelated healthy controls.Conclusion The missense mutation of SCN9A gene is the underlying cause of the patient's clinical phenotype.
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genomic DNA
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We report the identification, cloning, and mapping of a new cell division gene, ftsQ. This gene formed part of a cluster of three division genes (in the order ftsQ ftsA ftsZ) which itself formed part of a larger cluster of at least 10 genes, all of which were involved in some step in cell division, cell envelope synthesis, or both. The ftsQAZ group was transcribed from at least two independent promoters.
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Cell division is regulated so that it occurs only once per cell cycle. In Escherichia coli, a rod-shaped bacterium, division normally takes place at the center of the long axis of the cell; however, in the minicell mutant, division can also take place at the cell pole. Such divisions take place at the expense of normal divisions, resulting in an overall increase in nucleated cell length. We report here that increasing the level of FtsZ can completely suppress the cell length of the minicell mutant by increasing the frequency at which cell division events take place. This result suggests that the level of FtsZ controls the frequency of cell division in E. coli.
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[Identification of a novel NF1 mutation in a Chinese family affected with neurofibromatosis type I].
To explore the molecular basis for a Chinese family affected with neurofibromatosis type I.Peripheral blood samples were collected from the proband and his parents. Potential mutations of NF1 gene were screened by PCR and Sanger sequencing. Pathogenicity of candidate mutations was analyzed using Polyphen-2 and Provean software.Two mutations of the NF1 gene, including c.702G>A (synonymous mutation) and c.1733T>G (missense mutation), were discovered in the proband. Neither mutation was found in his parents and 50 healthy controls. Bioinformatics analysis indicated that the c.1733T>G mutation (p.Leu578Arg) was probably damaging. The affected codon L578 is highly conserved across various species.The c.1733T>C mutation of the NF1 gene probably underlies the neurofibromatosis type I in this family.
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Objective To investigate 2 giant axonal neuropathy (GAN) families and detect the mutation of GAN gene in their family.Methods The encoding exons of GAN gene were amplified from genomic DNA of the probands and their parents by PCR and directly sequenced after getting purified.Results No.1 proband manifested typical neurological symptoms and pathological abnormalities.The case of the girl had 2 heterozygous missense mutations in GAN gene:1.c.224TA in exon 2,which results in the amino acid change of L75H;her mother was a heterozygote of this mutation and had normal phenotype,while her father had normal genotype in this site;2.c.1634GA in exon 10,her father was a heterozygote of this mutation and had normal phenotype,while her mother had normal genotype in this site.Both of the mutations cause amino acid changes in the gigaxonin protein.No mutation was detected in proband No.2.Conclusions In family 1,missense mutation of c.224TA and missense mutation of c.1634GA in GAN gene cause the phenotype of GAN in the proband.The girl′s parents are heterozygotes of the disease without symptoms.There may be other mode of inheritance in family 2.
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Compound heterozygosity
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The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency caused by mutations in the WASP gene. The disease is known to be associated with extensive clinical variability, and mutation studies indicate that genotypes are also highly variant among WAS patients. In this study, we performed mutation analysis of the WASP gene in 14 unrelated Spanish families by single strand conformation analysis (SSCA) and sequencing, resulting in the identification of a novel mutation and nine known mutations. No mutation was identified in one family. The ten different mutations include point mutations resulting in amino acid substitutions, stop codons, and small deletions and insertions causing frameshifts. Missense mutations were preferentially located in the amino-terminal part of the protein, exons 2 and 4, whereas stop and frameshift mutations were located in the carboxyl-terminal region, exons 10 and 11. However, in two families, two missense mutations in exon 11 were identified. Our study demonstrates that WASP genotypes have some concordance with the patients' phenotypes, although mutation 1019delC, identified in a family with several affected members, resulted in high intrafamilial clinical variability. © 2001 Wiley-Liss, Inc.
Wiskott–Aldrich syndrome protein
Wiskott–Aldrich syndrome
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Compound heterozygosity
Heterozygote advantage
Mutation frequency
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