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*  Stepwise mutation model
... rates of mutation than small alleles and including variations that suggest that mutations are split between point mutations ... The original model assumes that if an allele has a mutation that causes it to change in state, mutations that occur in ... The stepwise mutation model (SMM) is a mathematical theory, developed by Motoo Kimura and Tomoko Ohta, that allows for ... For example, it is possible that two individual are identical at a given locus, having the same mutation even from its common ...
*  Point mutation
Point mutations may arise from spontaneous mutations that occur during DNA replication. The rate of mutation may be increased ... Point mutations in multiple tumor suppressor proteins cause cancer. For instance, point mutations in Adenomatous Polyposis Coli ... mutation in the deoxyribonucleic acid (DNA) that occurs at one point. Point mutations usually take place during DNA replication ... a mutation called a frameshift mutation). Point mutations that occur in non-coding sequences are most often without ...
*  Point accepted mutation
... point accepted mutation matrices (PAM matrices) and the PAMn matrix. The term 'point accepted mutation' refers to the mutation ... In particular, silent mutations are not point accepted mutations, nor are mutations which are lethal or which are rejected by ... One of the possible mutations that occurs is the replacement of a single nucleotide, known as a point mutation. If a point ... The term accepted point mutation was initially used to describe the mutation phenomenon. However, the acronym PAM was preferred ...
*  Animal model of schizophrenia
ENU introduces missense point mutations; screening for mutations in a particular exon of DISC1 can produce mouse models with ... Sdy mice have homozygous mutations to DTNBP1, and lack the ability to produce dysbindin, heterozygous mutants can be produced ... PPP3CC PPP3CC is a gene in which mutations are risk factors for schizophrenia; knockout animal models have social deficits. ...
*  SNP genotyping
"Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)". Nucleic Acids Research 17 (7): ... A SNP is a single base pair mutation at a specific locus, usually consisting of two alleles (where the rare allele frequency is ... cut the genomic sample results in an identifiably larger than expected fragment implying that there is a mutation at the point ... Because DASH genotyping is measuring a quantifiable change in Tm, it is capable of measuring all types of mutations, not just ...
*  TUBA1A
The relevant point mutation resulted in S140G; the site of the mutation participates in the N-site of the formed α-tubulin, and ... TUBA1A mutation is common in microlissencephaly Keays et al. describe a mouse with a mutation of the TUBA1A gene induced by N- ... 105 (6 Pt 2): 3065-73. doi:10.1083/jcb.105.6.3065. PMC 2114727 . PMID 3693406. Cowan NJ, Dobner PR, Fuchs EV, Cleveland DW ( ... The S140G mutation resulted in the formation of a "compromised GTP binding pocket". Authors note defects associated with ...
*  Ethyl methanesulfonate
This typically produces only point mutations. It can induce mutations at a rate of 5x10−4 to 5x10−2 per gene without ... Mutations induced by EMS can then be studied in genetic screens or other assays. Mutagenesis (molecular biology technique) ... Following subsequent rounds of replication, the original G:C base pair can become an A:T pair (a transition mutation). This ... It produces random mutations in genetic material by nucleotide substitution; particularly by guanine alkylation. ...
*  CEBPA
Leroy H, Roumier C, Huyghe P, Biggio V, Fenaux P, Preudhomme C (March 2005). "CEBPA point mutations in hematological ... Characterization of CEBPA mutations in acute myeloid leukemia: most patients with CEBPA mutations have biallelic mutations and ... N-terminal frameshift mutation, and C-terminal mutation. These mutations are most frequently found in acute myeloid leukemia M1 ... Patients with CEBPA mutations have longer remission duration and survival time than those without the mutations. Therefore, the ...
*  Short stature homeobox gene
2001). "SHOX point mutations in dyschondrosteosis". J. Med. Genet. 38 (5): 323. doi:10.1136/jmg.38.5.323. PMC 1734877 . PMID ... 1998). "Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis". Nat. Genet. 19 (1): 70-3. ... 1998). "SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)". Nat. Genet. 19 (1): 67-9. doi:10.1038/ng0198-67. PMID ... 2000). "Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia". Hum. ...
*  Kell antigen system
Absence of the XK protein (such as through genetic deletion or through a single point mutation within the coding region of the ... 1998 May 29;273(22):13950-6. "Entrez Gene: KEL". Russo DC, Lee S, Reid ME, Redman CM (Mar 2002). "Point mutations causing the ... a mutation at the splice site of human KEL gene abolishes the expression of Kell blood group antigens". J. Biol. Chem. 276 (13 ... OMIM entry for XK protein Kell at BGMUT Blood Group Antigen Gene Mutation Database at NCBI, NIH KEL protein, human at the US ...
*  Demethylase
"KDM6A point mutations cause Kabuki syndrome". Human Mutation. 34 (1): 108-10. doi:10.1002/humu.22229. PMID 23076834. Agger K, ... Deletions and point mutations of KDM6A have been identified as one cause of Kabuki Syndrome, a congenital disorder resulting in ... Mutations to the JmjC domain in Drosophila causes either lethal effects on larval or many developmental defects in those that ... KDM5C mutations (found on the X-chromosome) have also been found in patients with X-linked mental retardation. Depletion of ...
*  No-SCAR (Scarless Cas9 Assisted Recombineering) Genome Editing
1989). "Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)". Nucleic Acids Res. 17: ... In the case of point mutations, oligonucleotides targeted to the lagging strand are designed to alter the either the PAM ... The SCAR-less method is able to induce point mutations, oligonucleotide-mediated deletions, and short sequence insertions with ... Therefore, efficiency can be low (0.1-10% for point mutations; 10−5-10−6 for insertions, deletions, or replacements) and ...
*  Blue cone monochromacy
The point mutation is the so-called C203R. The name of the point mutations indicates the position at which mutation has ... Other mutations on genes OPN1LW and OPN1MW that lead to the Blue Cone Monochromacy are constituted by a set of point mutations ... Other point mutations are the P307L and R247X. The last one replaces arginine with the Stop codon, prematurely stopping at ... This type of mutation is named W177R and is a misfolding mutation that, if present on both opsin genes cause cone dystrophy ...
*  Indel
... s can be contrasted with a point mutation. An indel inserts and deletes nucleotides from a sequence, while a point ... Tandem-based mutations occur in mouse liver and adipose tissue preferentially as G:C to T:A transversions and accumulate with ... In coding regions of the genome, unless the length of an indel is a multiple of 3, it will produce a frameshift mutation. For ... Indels can also be contrasted with Tandem Base Mutations (TBM), which may result from fundamentally different mechanisms. A TBM ...
*  Neurofibromatosis type II
In cases with mutations in the splice-acceptor-region, there is no good correlation to determine. Point mutations may have only ... Patients with frameshift mutations or nonsense mutations suffer poor prognosis. Patients with missense mutations have a better ... Mutations of NF II is presumed to result in either a failure to synthesize Merlin or the production of a defective peptide that ... Mutations in the Schwannomin-gene are thought to alter the movement and shape of affected cells with loss of contact inhibition ...
*  Germacrene
Point mutation of (+)-germacrene A synthase from Ixeris dentata. Biotechnol Lett. 2005 Mar;27(5):285-8. Rivero-Cruz B, Rivero- ...
*  Germacrene-A synthase
Chang YJ, Jin J, Nam HY, Kim SU (2005). "Point mutation of (+)-germacrene A synthase from Ixeris dentata". Biotechnol. Lett. 27 ...
*  Factor XI
Pugh RE, McVey JH, Tuddenham EG, Hancock JF (Mar 1995). "Six point mutations that cause factor XI deficiency". Blood. 85 (6): ... deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations". Proceedings of the ... Imanaka Y, Lal K, Nishimura T, Bolton-Maggs PH, Tuddenham EG, McVey JH (Aug 1995). "Identification of two novel mutations in ... Dossenbach-Glaninger A, Hopmeier P (Jun 2005). "Coagulation factor XI: a database of mutations and polymorphisms associated ...
*  Forward genetics
Often hundreds of thousands of mutations are generated. Chemicals like ethylmethanesulfonate (EMS) cause random point mutations ... Mutations can also be generated by insertional mutagenesis. For example, transposable elements containing a marker are ... Eventually the hope is that such screens would reach a large enough scale that most or all newly generated mutations would ... This was initially done by using naturally occurring mutations or inducing mutants with radiation, chemicals, or insertional ...
*  Antitermination
Point mutations in BOXA induce premature transcription termination. rrn antitermination requires NusB in vivo, as shown by a ... no point mutations in nusG that block N activity have been isolated. A NusG homolog, RfaH, enhances elongation of several ... and these mutations can be suppressed by additional mutations that restore base pairing. Like lambda N and Q, the PUT sequences ... Strains carrying these mutations are unable to support lytic growth of HK022 but are normal in all other respects tested, ...
*  Benzimidazole fungicide
Resistant genotypes with certain point mutations were selected. Mutant pathogens resistant to one benzimidazole fungicide are ... The F200Y and E198A,G,K mutations are the most common. Because of resistance problems, use of benzimidazole fungicides has ...
*  AMPD3
... screening for the major point mutation and identification of other mutations". Hum. Mol. Genet. 3 (12): 2243-5. doi:10.1093/hmg ... Yamada Y, Goto H, Ogasawara N (1994). "A point mutation responsible for human erythrocyte AMP deaminase deficiency". Hum. Mol. ... Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency ... a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members ...
*  Thyroglobulin
"Thyroglobulin gene point mutation associated with non-endemic simple goitre". Lancet. 341 (8843): 462-4. doi:10.1016/0140-6736( ...
*  5-Bromouracil
Thus 5-BrU induces a point mutation via base substitution. This base pair will change from an A-T to a G-C or from a G-C to an ... and can induce DNA mutation in the same way as 2-aminopurine. It is used mainly as an experimental mutagen, but its ...
*  Melarsoprol
Resistance can occur with point mutations within this transporter. Resistance has been present since the 1970s. Although ...
*  Anton Chekhov
Up to that point, Chekhov, known as "Russia's most elusive literary bachelor," had preferred passing liaisons and visits to ... Adapting Chekhov: The Text and Its Mutations. Routledge. pp. 269-270. ISBN 978-0-415-50969-5. Allen, David, Performing Chekhov ...
*  T4 rII system
By various crosses of the many different strains exhibited deletions and point mutations, Benzer located each point mutation ... and ordered the point mutations within that sub-region. Benzer also proposed missense and nonsense mutations from his rII ... Some he classified as deletions, others as point mutations. ... One type of mutation in the T4 bacteriophage identified by ... The principal that three sequential bases of DNA code for each amino acid was demonstrated in 1961 using frameshift mutations ...