A nine-base pair deletion distinguishes two En/Spm transposon alleles in maize: Their genetic activity and molecular description

Two En/Spm-transposable element alleles of the A1 locus in maize (Zea mays) are described. One of the alleles is al-m (papu), (PETERSON, 1961). The distinctive phenotype of this allele is characterized with pale and purple sectoring amidst large areas of no sectoring. The other allele, al-m (Au), appears full colored but is heavily mutating and expresses large colorless areas. These two alleles differ in the frequency of derivative products [al-m( papu)-colorless and pale exceptions vs al- m(Au)-mostly colorless exceptions]. A molecular description is provided in an attempt to explain these differences in phenotypes and derivative products. A nine-base-pair deficiency in Exon 2 of the A1 locus of the a1- m (papu) allele originated following the origin of this allele and this deficiency is likely responsible for the differential phenotypes. The possible origin of this nine-base-pair deletion is discussed. .

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Mutation Spectrum in Patients with Wiskott-Aldrich Syndrome and X-linked Thrombocytopenia: Identification of Twelve Different Mutations in the WASP Gene

Thrombosis and Haemostasis ◽

10.1055/s-0038-1650318 ◽

1996 ◽

Vol 75 (04) ◽

pp. 546-550 ◽

Cited By ~ 21

Author(s):

Marianne Schwartz ◽

Albert Békássy ◽

Mikael Donnér ◽

Thomas Hertel ◽

Stefan Hreidarson ◽

...

Keyword(s):

Base Pair ◽

Hot Spot ◽

Missense Mutations ◽

Nucleotide Substitutions ◽

Exon 2 ◽

Wiskott Aldrich Syndrome ◽

Base Pair Deletion ◽

Reliable Diagnosis ◽

Wasp Gene ◽

Detection Of Mutations

SummaryTwelve different mutations in the WASP gene were found in twelve unrelated families with Wiskott-Aldrich syndrome (WAS) or X-linked thrombocytopenia (XLT). Four frameshift, one splice, one nonsense mutation, and one 18-base-pair deletion were detected in seven patients with WAS. Only missense mutations were found in five patients diagnosed as having XLT. One of the nucleotide substitutions in exon 2 (codon 86) results in an Arg to Cys replacement. Two other nucleotide substitutions in this codon, R86L and R86H, have been reported previously, both giving rise to typical WAS symptoms, indicating a mutational hot spot in this codon. The finding of mutations in the WASP gene in both WAS and XLT gives further evidence of these syndromes being allelic. The relatively small size of the WASP gene facilitates the detection of mutations and a reliable diagnosis of both carriers and affected fetuses in families with WAS or XLT.

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Genetic analysis of the functions of the transposable element En in Zea mays: limited transposase elicits a differential response on reporter alleles.

Genetics ◽

10.1093/genetics/141.3.1135 ◽

1995 ◽

Vol 141 (3) ◽

pp. 1135-1145

Author(s):

P A Peterson

Keyword(s):

Zea Mays ◽

Genetic Analysis ◽

Transposable Element ◽

Differential Response ◽

The Other ◽

Carboxy Terminus ◽

Suppressor Function ◽

Genetically Determined ◽

Derivatives Of

Abstract The En/Spm transposable element has 13 exons. Eleven of the exons contribute to the 2.5-kb transcript (tnpA) that encodes the TNPA protein. The other two large exons contribute to a 6-kb transcript (tnpD) that encodes the TNPD protein. The TNPA protein conditions the genetically determined suppressor function (S) and the TNPD protein along with the TNPA protein provides the mutator (M) function. The limits of the DNA En/Spm element sequences responsible for the two functions (S and M) have previously been tested by studies with transgenic systems and two mutant derivatives of En/Spm. Experiments reported here expand on the conclusions derived from studies with the two mutant derivatives En2 and Spm-w 8011. By using an appropriate reporter allele, the mutator function of En2, though impaired, shows a perceptible mutator expression. A less impaired (partially deleted vs. complete subterminal motifs) reporter allele will elicit expression from a limited amount of transposase. This demonstrates that the carboxy terminus is not essential for M function. The suppressor function of En2 is limited when various doses of both transposase-contributing alleles, as well as reporter alleles, are tested. The basis of the differences between suppressible and nonsuppressible alleles is also discussed.

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Multiple Mechanisms of Phase Variation of PorA inNeisseria meningitidis

Infection and Immunity ◽

10.1128/iai.68.12.6685-6690.2000 ◽

2000 ◽

Vol 68 (12) ◽

pp. 6685-6690 ◽

Cited By ~ 58

Author(s):

Arie van der Ende ◽

Carla T. P. Hopman ◽

Jacob Dankert

Keyword(s):

Sequence Analysis ◽

Base Pair ◽

Phase Variation ◽

The Other ◽

Body Parts ◽

Coding Region ◽

Homopolymeric Tract ◽

Single Base ◽

Base Pair Deletion ◽

Single Base Pair

ABSTRACT Previously, we reported that PorA expression in Neisseria meningitidis is modulated by variation in the length of the homopolymeric tract of guanidine residues between the −35 and −10 regions of the promoter or by deletion of porA. To reveal additional mechanisms of variation in PorA expression, the meningococcal isolates from 41 patients and 19 carriers were studied. In addition, at least 3 meningococcal isolates from different body parts of each of 11 patients were analyzed. Sequence analysis of theporA promoter showed that the spacer between the −35 and −10 regions varies in length between 14 and 24 bp. PorA expression was observed in strains with a porA promoter spacer of 16 to 24 bp. All but one strain with a porA promoter spacer of 16 to 20 bp and undetectable PorA expression have a homopolymeric tract of 8 or 6 instead of 7 adenine residues in the porA coding region. The other PorA-negative strain had a single-base-pair deletion in the coding region. The highest level of PorA expression was observed in strains with a promoter spacer of 17 or 18 bp. PorA expression was reduced twofold in strains with a porA promoter spacer of 16 or 19 bp. Strains with a 16-bp promoter spacer with substitutions in the polyguanidine tract displayed increased levels of PorA expression compared to strains with a homopolymeric tract of guanidine residues in the porA promoter. In conclusion, meningococci display multiple mechanisms for varying PorA expression.

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Severe perinatal hydrops fetalis in genome edited pigs with a biallelic five base pair deletion of the Marfan syndrome gene, FBN1

10.1101/2020.07.20.213108 ◽

2020 ◽

Author(s):

Hiu-Gwen Tsang ◽

Simon Lillico ◽

Christopher Proudfoot ◽

Mary E. B. McCulloch ◽

Greg Markby ◽

...

Keyword(s):

Marfan Syndrome ◽

Base Pair ◽

Hydrops Fetalis ◽

Large Animal Model ◽

Large Animal ◽

End Joining ◽

Exon 2 ◽

Base Pair Deletion ◽

A Genome ◽

Non Homologous End Joining

AbstractThis paper describes a genome editing project using CRISPR-Cas9. The objective was to create a large animal model of human Marfan syndrome by targeting the FBN1 gene of the pig, Sus scrofa, using a single guide and non-homologous end joining which was expected to create short insertion or deletion mutations at the 5’ end of the gene. The editing successfully created a five base pair deletion in exon 2 of FBN1, which was homozygous in two animals. However, the phenotype of these piglets was unexpected, since they showed none of the signs consistent with Marfan syndrome but both suffered extreme hydrops fetalis with a large amount of fluid located under the skin and in the abdomen. One of the edited piglets was stillborn and the other was euthanised at birth on welfare grounds. It is likely that this result was due to unanticipated on- or off-target mutations, possibly in the GLDN gene 3 megabases away from FBN1. This result provides more evidence for unexpected outcomes of CRISPR- Cas9 gene editing and supports the proposal that all genome edited individuals should be subjected to strategies to track the CRISPR footprint, such as whole genome sequencing, before being used for further experimentation or in clinical applications.

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Absence of overt iron overload in two individuals compound heterozygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the HFE gene

Clinical Genetics ◽

10.1034/j.1399-0004.2003.00028.x ◽

2003 ◽

Vol 63 (2) ◽

pp. 163-165 ◽

Cited By ~ 7

Keyword(s):

Iron Overload ◽

Missense Mutation ◽

Base Pair ◽

Hfe Gene ◽

Exon 2 ◽

Base Pair Deletion ◽

Compound Heterozygotes

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Detection of the Glanzmann's Thrombasthenia Mutations in Arab and Iraqi-Jewish Patients by Polymerase Chain Reaction and Restriction Analysis of Blood or Urine Samples

Thrombosis and Haemostasis ◽

10.1055/s-0038-1646446 ◽

1991 ◽

Vol 66 (04) ◽

pp. 500-504 ◽

Cited By ~ 28

Author(s):

H Peretz ◽

U Seligsohn ◽

E Zwang ◽

B S Coller ◽

P J Newman

Keyword(s):

Polymerase Chain Reaction ◽

Base Pair ◽

Restriction Analysis ◽

Urine Samples ◽

Chain Reaction ◽

Base Pairs ◽

Glanzmann’S Thrombasthenia ◽

Glanzmann's Thrombasthenia ◽

Base Pair Deletion ◽

Polymerase Chain

SummarySevere Glanzmann's thrombasthenia is relatively frequent in Iraqi-Jews and Arabs residing in Israel. We have recently described the mutations responsible for the disease in Iraqi-Jews – an 11 base pair deletion in exon 12 of the glycoprotein IIIa gene, and in Arabs – a 13 base pair deletion at the AG acceptor splice site of exon 4 on the glycoprotein IIb gene. In this communication we show that the Iraqi-Jewish mutation can be identified directly by polymerase chain reaction and gel electrophoresis. With specially designed oligonucleotide primers encompassing the mutation site, an 80 base pair segment amplified in healthy controls was clearly distinguished from the 69 base pair segment produced in patients. Patients from 11 unrelated Iraqi-Jewish families had the same mutation. The Arab mutation was identified by first amplifying a DNA segment consisting of 312 base pairs in controls and of 299 base pairs in patients, and then digestion by a restriction enzyme Stu-1, which recognizes a site that is absent in the mutant gene. In controls the 312 bp segment was digested into 235 and 77 bp fragments, while in patients there was no change in the size of the amplified 299 bp segment. The mutation was found in patients from 3 out of 5 unrelated Arab families. Both Iraqi-Jewish and Arab mutations were detectable in DNA extracted from blood and urine samples. The described simple methods of identifying the mutations should be useful for detection of the numerous potential carriers among the affected kindreds and for prenatal diagnosis using DNA extracted from chorionic villi samples.

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Influence of Application Method on the Activity of Butylate and EPTC in Reduced-Tillage Corn (Zea mays)

Weed Science ◽

10.1017/s0043174500053911 ◽

1987 ◽

Vol 35 (3) ◽

pp. 412-417 ◽

Cited By ~ 5

Author(s):

Douglas D. Buhler

Keyword(s):

Zea Mays ◽

Weed Control ◽

The Other ◽

Growth Chamber ◽

Reduced Tillage ◽

Corn Yield ◽

Liquid Fertilizer ◽

Application Method ◽

Control Growth ◽

Application Methods

Weed control in reduced-tillage corn (Zea maysL. ‘Pioneer 3732′) with butylate [S-ethyl bis(2-methylpropyl) carbamothioate] and EPTC (S-ethyl dipropyl carbarnothioate) was not reduced when these herbicides were applied jointly with dry or liquid fertilizer. In most cases, application with fertilizer resulted in weed control similar to that observed when the herbicide was applied in water at 285 L/ha. Butylate applied as a granular formulation also gave weed control similar to the spray at 285 L/ha. Application in 95 L/ha of water consistently resulted in reduced weed control. Corn injury was not greatly influenced by application method, and differences in corn yield appeared to be due to differences in weed control. Growth chamber bioassays indicated that both butylate and EPTC dissipated more rapidly when applied in 95 L/ha of water than the other application methods, which may explain differences in weed control observed in the field.

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