Characterization of a single base-pair deletion in neurofibromatosis type 1

1993 ◽  
Vol 2 (10) ◽  
pp. 1709-1711 ◽  
Author(s):  
Seven D. Colman ◽  
Francis S. Collins ◽  
Margaret R. Wallace
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Base Pair ◽  
Neurofibromatosis Type ◽  
Single Base ◽  
Base Pair Deletion ◽  
Single Base Pair

scholarly journals Overexpression of the MtrC-MtrD-MtrE Efflux Pump Due to an mtrR Mutation Is Required for Chromosomally Mediated Penicillin Resistance in Neisseria gonorrhoeae

2002 ◽  
Vol 184 (20) ◽  
pp. 5619-5624 ◽  
Author(s):  
Wendy L. Veal ◽  
Robert A. Nicholas ◽  
William M. Shafer
Keyword(s):  
Neisseria Gonorrhoeae ◽  
Base Pair ◽  
Efflux Pump ◽  
Penicillin Resistance ◽  
Single Base ◽  
Base Pair Deletion ◽  
Resistance To Penicillin ◽  
Single Base Pair ◽  
High Level ◽  
Level Resistance

ABSTRACT The importance of the mtrCDE-encoded efflux pump in conferring chromosomally mediated penicillin resistance on certain strains of Neisseria gonorrhoeae was determined by using genetic derivatives of penicillin-sensitive strain FA19 bearing defined mutations (mtrR, penA, and penB) donated by a clinical isolate (FA6140) expressing high-level resistance to penicillin and antimicrobial hydrophobic agents (HAs). When introduced into strain FA19 by transformation, a single base pair deletion in the mtrR promoter sequence from strain FA6140 was sufficient to provide high-level resistance to HAs (e.g., erythromycin and Triton X-100) but only a twofold increase in resistance to penicillin. When subsequent mutations in penA and porIB were introduced from strain FA6140 into strain WV30 (FA19 mtrR) by transformation, resistance to penicillin increased incrementally up to a MIC of 1.0 μg/ml. Insertional inactivation of the gene (mtrD) encoding the membrane transporter component of the Mtr efflux pump in these transformant strains and in strain FA6140 decreased the MIC of penicillin by 16-fold. Genetic analyses revealed that mtrR mutations, such as the single base pair deletion in its promoter, are needed for phenotypic expression of penicillin and tetracycline resistance afforded by the penB mutation. As penB represents amino acid substitutions within the third loop of the outer membrane PorIB protein that modulate entry of penicillin and tetracycline, the results presented herein suggest that PorIB and the MtrC-MtrD-MtrE efflux pump act synergistically to confer resistance to these antibiotics.

scholarly journals Characterization of early communicative behavior in mouse models of neurofibromatosis type 1

2017 ◽  
Vol 11 (1) ◽  
pp. 44-58 ◽  
Author(s):  
Susan E. Maloney ◽  
Krystal C. Chandler ◽  
Corina Anastasaki ◽  
Michael A. Rieger ◽  
David H. Gutmann ◽  
...  
Keyword(s):  
Mouse Models ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Communicative Behavior

Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria

1993 ◽  
Vol 2 (9) ◽  
pp. 1495-1496 ◽  
Author(s):  
David J. Todd ◽  
Anne E. Hughes ◽  
Kevin T. Ennls ◽  
Alana J. Ward ◽  
Desmond Burrows ◽  
...  
Keyword(s):  
Base Pair ◽  
Erythropoietic Protoporphyria ◽  
Single Base ◽  
Base Pair Deletion ◽  
Exon 1 ◽  
Single Base Pair

scholarly journals SEQUENCING STUDIES OF ICR-170 MUTAGENIC SPECIFICITY IN THE am (NADP-SPECIFIC GLUTAMATE DEHYDROGENASE) GENE OF NEUROSPORA CRASSA

Genetics ◽  
1986 ◽  
Vol 113 (1) ◽  
pp. 45-51
Author(s):  
Philip A Burns ◽  
Jane H Kinnaird ◽  
Brian J Kilbey ◽  
John R S Fincham
Keyword(s):  
Neurospora Crassa ◽  
Base Pair ◽  
Uv Light ◽  
Base Pairs ◽  
Single Base ◽  
Base Pair Deletion ◽  
Dehydrogenase Gene ◽  
Sequencing Studies ◽  
Single Base Pair ◽  
Base Pair Insertion

ABSTRACT The acridine half-mustard ICR-170-induced reversion of the mutant am15, which has a single base-pair deletion, at a frequency of between 9 and 28 × 10-6. In each of three classes of revertants, the mutagen had induced the insertion of a (see PDF) base pair at a (see PDF) site. The mutant am6, which has a single base pair insertion, is known to be revertible, with UV light, by deletion of a (see PDF) base pair at a (see PDF) site. This mutant reverted with ICR-170 at a frequency of 0.1 × 10-6. These results show that ICR-170 is able to induce addition frameshifts in Neurospora crassa within short, monotonous runs of G:C base pairs, but indicate a lack of deletion activity at such sequences.

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