scholarly journals Cytosine Unstacking and Strand Slippage at an Insertion–Deletion Mutation Sequence in an Overhang-Containing DNA Duplex

Biochemistry ◽  
2014 ◽  
Vol 53 (23) ◽  
pp. 3807-3816 ◽  
Author(s):  
Swati R. Manjari ◽  
Janice D. Pata ◽  
Nilesh K. Banavali
Keyword(s):  
Deletion Mutation ◽  
Dna Duplex ◽  
Mutation Sequence

Influence of an exocyclic guanine adduct on the thermal stability, conformation, and melting thermodynamics of a DNA duplex

Biochemistry ◽  
1992 ◽  
Vol 31 (48) ◽  
pp. 12096-12102 ◽  
Author(s):  
G. Eric Plum ◽  
Arthur P. Grollman ◽  
Frances Johnson ◽  
Kenneth J. Breslauer
Keyword(s):  
Thermal Stability ◽  
Dna Duplex ◽  
Melting Thermodynamics

scholarly journals Substrate Spectrum Extension of PenA in Burkholderia thailandensis with a Single Amino Acid Deletion, Glu168del

2012 ◽  
Vol 56 (7) ◽  
pp. 4005-4008 ◽  
Author(s):  
Hyojeong Yi ◽  
Karan Kim ◽  
Kwang-Hwi Cho ◽  
Oksung Jung ◽  
Heenam Stanley Kim
Keyword(s):  
Deletion Mutation ◽  
Single Amino Acid ◽  
Functional Domain ◽  
Amino Acid Deletion ◽  
Burkholderia Thailandensis ◽  
Content Type ◽  
Class A ◽  
Omega Loop ◽  
Substitution Mutations ◽  
Substrate Spectrum

ABSTRACTWe describe a deletion mutation in a class A β-lactamase, PenA, ofBurkholderia thailandensisthat extended the substrate spectrum of the enzyme to include ceftazidime. Glu168del was located in a functional domain called the omega loop causing expansion of the space in the loop, which in turn increased flexibility at the active site. This deletion mutation represents a rare but significant alternative mechanical path to substrate spectrum extension in PenA besides more common substitution mutations.

scholarly journals Mechanistic insights into the R-loop formation and cleavage in CRISPR-Cas12i1

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Bo Zhang ◽  
Diyin Luo ◽  
Yu Li ◽  
Vanja Perčulija ◽  
Jing Chen ◽  
...  
Keyword(s):  
Genome Editing ◽  
Dna Cleavage ◽  
Binary Complex ◽  
Loop Formation ◽  
Dna Duplex ◽  
Target Dna ◽  
Before And After ◽  
Dna Strand ◽  
Type V ◽  
Functionally Diverse

AbstractCas12i is a newly identified member of the functionally diverse type V CRISPR-Cas effectors. Although Cas12i has the potential to serve as genome-editing tool, its structural and functional characteristics need to be investigated in more detail before effective application. Here we report the crystal structures of the Cas12i1 R-loop complexes before and after target DNA cleavage to elucidate the mechanisms underlying target DNA duplex unwinding, R-loop formation and cis cleavage. The structure of the R-loop complex after target DNA cleavage also provides information regarding trans cleavage. Besides, we report a crystal structure of the Cas12i1 binary complex interacting with a pseudo target oligonucleotide, which mimics target interrogation. Upon target DNA duplex binding, the Cas12i1 PAM-interacting cleft undergoes a remarkable open-to-closed adjustment. Notably, a zipper motif in the Helical-I domain facilitates unzipping of the target DNA duplex. Formation of the 19-bp crRNA-target DNA strand heteroduplex in the R-loop complexes triggers a conformational rearrangement and unleashes the DNase activity. This study provides valuable insights for developing Cas12i1 into a reliable genome-editing tool.

Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

2021 ◽  
pp. 104063872110075
Author(s):  
Tuddow Thaiwong ◽  
Sarah Corner ◽  
Stacey La Forge ◽  
Matti Kiupel
Keyword(s):  
Hair Loss ◽  
Autosomal Recessive ◽  
Early Death ◽  
Deletion Mutation ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
German Shepherd ◽  
Hair Coat ◽  
Pituitary Dwarfism ◽  
Autosomal Recessive Manner

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

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