FecB mutation and litter size are associated with a 90-base pair deletion in BMPR1B in East Friesian and Hu crossbred sheep

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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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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A New 2–Base Pair Deletion in the RPGR Gene in a Black Family With X-Linked Retinitis Pigmentosa

Archives of Ophthalmology ◽

10.1001/archopht.116.2.213 ◽

1998 ◽

Vol 116 (2) ◽

Cited By ~ 7

Author(s):

Gerald A. Fishman ◽

Sandeep Grover ◽

Monika Buraczynska ◽

Weiping Wu ◽

Anand Swaroop

Keyword(s):

Retinitis Pigmentosa ◽

Base Pair ◽

Black Family ◽

Base Pair Deletion

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Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype

The Journal of Immunology ◽

10.4049/jimmunol.0802124 ◽

2009 ◽

Vol 182 (6) ◽

pp. 3902-3918 ◽

Cited By ~ 82

Author(s):

François-Xavier Hubert ◽

Sarah A. Kinkel ◽

Pauline E. Crewther ◽

Ping Z. F. Cannon ◽

Kylie E. Webster ◽

...

Keyword(s):

Base Pair ◽

Deletion Mutation ◽

Base Pair Deletion ◽

The Common

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The HLA-G 14-base pair deletion allele and the deletion/deletion genotype are associated with persistent HBe antigenemia in chronic hepatis B infection

Human Immunology ◽

10.1016/j.humimm.2016.12.011 ◽

2017 ◽

Vol 78 (2) ◽

pp. 166-171 ◽

Cited By ~ 6

Author(s):

Sandro da Costa Ferreira ◽

Silvana Gama Florêncio Chachá ◽

Fernanda Fernandes Souza ◽

Andreza Corrêa Teixeira ◽

Rodrigo de Carvalho Santana ◽

...

Keyword(s):

Base Pair ◽

Deletion Allele ◽

Base Pair Deletion ◽

G 14

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

Journal of Bacteriology ◽

10.1128/jb.184.20.5619-5624.2002 ◽

2002 ◽

Vol 184 (20) ◽

pp. 5619-5624 ◽

Cited By ~ 113

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.

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Saccharomyces cerevisiae GAL1-GAL10 divergent promoter region: location and function of the upstream activating sequence UASG

Molecular and Cellular Biology ◽

10.1128/mcb.4.11.2467-2478.1984 ◽

1984 ◽

Vol 4 (11) ◽

pp. 2467-2478

Author(s):

R W West ◽

R R Yocum ◽

M Ptashne

Keyword(s):

Saccharomyces Cerevisiae ◽

Base Pair ◽

Transcription Initiation ◽

Function Analysis ◽

Lacz Gene ◽

Chromosome 2 ◽

Proximal Half ◽

Base Pair Deletion ◽

Upstream Activating Sequence ◽

Beta Galactosidase

The GAL1 and GAL10 genes, separated by 680 base pairs and divergently transcribed on chromosome 2 of Saccharomyces cerevisiae, were separately fused to the lacZ gene of Escherichia coli so that beta-galactosidase synthesis in S. cerevisiae reflected GAL1 and GAL10 promoter function. Analysis of two sets of deletions defined a 75-base-pair sequence, located ca. midway between the transcription initiation regions of GAL1 and GAL10, that mediates GAL4-dependent induction of both genes. Deletion of various parts of this sequence (called the GAL upstream activating sequence or UASG) reduced GAL1 and GAL10 induction about equally. Sequences in the GAL10-proximal half of UASG in some sequence contexts functioned independently of sequences in the GAL1-proximal half of UASG. A 33-base-pair deletion of the GAL10-proximal half of UASG drastically reduced induction. Deletions between UASG and the GAL1 TATA box caused beta-galactosidase to be synthesized at an unexpectedly high basal level, that is, in the absence of galactose and GAL4 product. Some of these mutations also reduced the repression caused by glucose.

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Mating type control in Saccharomyces cerevisiae: a frameshift mutation at the common DNA sequence, X, of the HML alpha locus

Molecular and Cellular Biology ◽

10.1128/mcb.4.1.203-211.1984 ◽

1984 ◽

Vol 4 (1) ◽

pp. 203-211

Author(s):

K Tanaka ◽

T Oshima ◽

H Araki ◽

S Harashima ◽

Y Oshima

Keyword(s):

Mating Type ◽

Base Pair ◽

Reading Frame ◽

Base Pair Deletion ◽

A Cell ◽

Alpha Gene ◽

The Common ◽

Type Switch ◽

Diploid Cells ◽

Mat Locus

A mutation defective in the homothallic switching of mating type alleles, designated hml alpha-2, has previously been characterized. The mutation occurred in a cell having the HO MATa HML alpha HMRa genotype, and the mutant culture consisted of ca. 10% a mating type cells, 90% nonmater cells of haploid cell size, and 0.1% sporogenous diploid cells. Genetic analyses revealed that nonmater haploid cells have a defect in the alpha 2 cistron at the MAT locus. This defect was probably caused by transposition of a cassette originating from the hml alpha-2 allele by the process of the homothallic mating type switch. That the MAT locus of the nonmater cells is occupied by a DNA fragment indistinguishable from the Y alpha sequence in electrophoretic mobility was demonstrated by Southern hybridization of the EcoRI-HindIII fragment encoding the MAT locus with a cloned HML alpha gene as the probe. The hml alpha-2 mutation was revealed to be a one-base-pair deletion at the ninth base pair in the X region from the X and Y boundary of the HML locus. This mutation gave rise to a shift in the open reading frame of the alpha 2 cistron. A molecular mechanism for the mating type switch associated with the occurrence of sporogenous diploid cells in the mutant culture is discussed.

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