The DNA sequence of the human .beta.-globin region is strongly biased in favor of long strings of contiguous purine or pyrimidine residues

Biochemistry ◽  
1987 ◽  
Vol 26 (24) ◽  
pp. 7870-7875 ◽  
Author(s):  
Michael J. Behe
Keyword(s):  
Dna Sequence ◽  
Long Strings ◽  
Beta Globin

Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster

Blood ◽  
1990 ◽  
Vol 76 (1) ◽  
pp. 221-227
Author(s):  
CS Hatton ◽  
AO Wilkie ◽  
HC Drysdale ◽  
WG Wood ◽  
MA Vickers ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Dna Sequence ◽  
Interspecific Hybrid ◽  
Globin Gene ◽  
Regulatory Sequences ◽  
Globin Genes ◽  
Beta Globin ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Globin Synthesis

We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA chromosome. It seems probable that previously unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human beta globin cluster are removed by this deletion.

scholarly journals DNA sequence variation in a negative control region 5' to the beta- globin gene correlates with the phenotypic expression of the beta s mutation

Blood ◽  
1992 ◽  
Vol 79 (3) ◽  
pp. 787-792 ◽  
Author(s):  
J Elion ◽  
PE Berg ◽  
C Lapoumeroulie ◽  
G Trabuchet ◽  
M Mittelman ◽  
...  
Keyword(s):  
Dna Sequence ◽  
Sickle Cell ◽  
Globin Gene ◽  
Phenotypic Expression ◽  
Fetal Hemoglobin ◽  
Negative Control ◽  
Globin Genes ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Hb S

The clinical diversity of sickle cell anemia is strongly related to the degree of intracellular hemoglobin S (Hb S) polymerization, which in turn is dependent on the intracellular concentration of Hb S. We have recently defined a region of DNA approximately 500 bp 5′ to the human beta-globin gene that acts as a silencer for the transcription of this gene and have shown that a polymorphism in this sequence is associated with a thalassemic phenotype of the beta-globin gene. In this work we have examined the correlation of DNA sequence polymorphisms in this silencer with binding of a previously identified putative repressor protein, BP1, and with the expression of Hb S in individuals heterozygous for the beta s allele. It was found that specific configurations of the motif, (AT)x(T)y, are homogeneous for the major haplotypes of the beta-globin gene cluster described on beta s chromosomes. Binding of BP1 was measured to DNA of three haplotypes: Indian, Benin, and Bantu. BP1 binds most tightly to DNA of the Indian haplotype, and these patients produce less beta s protein than Benin patients, whose DNA exhibits weaker affinity for BP1. Binding of BP1 is the weakest to DNA of the Bantu haplotype, which is associated with clinically more severe sickle cell symptoms. These data are consistent with the hypothesis that these polymorphisms may not be neutral and that the DNA sequence at this site may affect the expression of the beta s gene. Such an effect may be synergistic with other genetic variables, such as fetal hemoglobin levels, F-cell numbers, and the number of alpha-globin genes, in determining intracellular polymerization and, thus, the severity of the sickle cell syndromes.

scholarly journals DNA sequence features in the establishing of H3K27ac

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 165 ◽  
Author(s):  
Anatoliy Zubritskiy ◽  
Yulia A. Medvedeva
Keyword(s):  
Dna Sequence ◽  
Dna Sequences ◽  
Gc Content ◽  
Beta Globin ◽  
Similar Sequence ◽  
Sequence Features

The presence of H3K27me3 has been demonstrated to correlate with the CpG content. In this work, we tested whether H3K27ac has similar sequence preferences. We performed a translocation of DNA sequences with various properties into a beta-globin locus to control for the local chromatin environment. Our results suggest that in contrast to H3K27me3, H3K27ac gain is unlikely affected by the CpG content of the underlying DNA sequence, while extremely high GC-content might contribute to the gain of the H3K27ac.

scholarly journals DNA sequence variation in a negative control region 5' to the beta- globin gene correlates with the phenotypic expression of the beta s mutation

Blood ◽  
1992 ◽  
Vol 79 (3) ◽  
pp. 787-792 ◽  
Author(s):  
J Elion ◽  
PE Berg ◽  
C Lapoumeroulie ◽  
G Trabuchet ◽  
M Mittelman ◽  
...  
Keyword(s):  
Dna Sequence ◽  
Sickle Cell ◽  
Globin Gene ◽  
Phenotypic Expression ◽  
Fetal Hemoglobin ◽  
Negative Control ◽  
Globin Genes ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Hb S

Abstract The clinical diversity of sickle cell anemia is strongly related to the degree of intracellular hemoglobin S (Hb S) polymerization, which in turn is dependent on the intracellular concentration of Hb S. We have recently defined a region of DNA approximately 500 bp 5′ to the human beta-globin gene that acts as a silencer for the transcription of this gene and have shown that a polymorphism in this sequence is associated with a thalassemic phenotype of the beta-globin gene. In this work we have examined the correlation of DNA sequence polymorphisms in this silencer with binding of a previously identified putative repressor protein, BP1, and with the expression of Hb S in individuals heterozygous for the beta s allele. It was found that specific configurations of the motif, (AT)x(T)y, are homogeneous for the major haplotypes of the beta-globin gene cluster described on beta s chromosomes. Binding of BP1 was measured to DNA of three haplotypes: Indian, Benin, and Bantu. BP1 binds most tightly to DNA of the Indian haplotype, and these patients produce less beta s protein than Benin patients, whose DNA exhibits weaker affinity for BP1. Binding of BP1 is the weakest to DNA of the Bantu haplotype, which is associated with clinically more severe sickle cell symptoms. These data are consistent with the hypothesis that these polymorphisms may not be neutral and that the DNA sequence at this site may affect the expression of the beta s gene. Such an effect may be synergistic with other genetic variables, such as fetal hemoglobin levels, F-cell numbers, and the number of alpha-globin genes, in determining intracellular polymerization and, thus, the severity of the sickle cell syndromes.

scholarly journals Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia

Blood ◽  
1990 ◽  
Vol 76 (10) ◽  
pp. 2132-2138
Author(s):  
RJ Trent ◽  
BG Williams ◽  
A Kearney ◽  
T Wilkinson ◽  
PC Harris
Keyword(s):  
Dna Sequence ◽  
Globin Gene ◽  
Globin Genes ◽  
The Novel ◽  
Beta Globin ◽  
Gamma Delta ◽  
Beta Globin Gene ◽  
Clinical Phenotypes ◽  
Dna Deletion

The DNA deletion associated with an example of (epsilon gamma delta beta)zero thalassemia (Scottish-Irish type) was characterized. The deletion is approximately 205 kb in length and involves the epsilon, G gamma, A gamma, delta, and beta globin genes. The breakpoint is located 263 bp 3′ to exon 3 of the beta globin gene. An LI (KpnI) repeat element approximately 320 bp in size is found at the 3′ end of the novel DNA sequence. Different clinical phenotypes for three heterozygous neonates suggest that the deletion alone does not predict severity of (epsilon gamma delta beta)zero thalassemia at this age.

scholarly journals Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster

Blood ◽  
1990 ◽  
Vol 76 (1) ◽  
pp. 221-227 ◽  
Author(s):  
CS Hatton ◽  
AO Wilkie ◽  
HC Drysdale ◽  
WG Wood ◽  
MA Vickers ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Dna Sequence ◽  
Interspecific Hybrid ◽  
Globin Gene ◽  
Regulatory Sequences ◽  
Globin Genes ◽  
Beta Globin ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Globin Synthesis

Abstract We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA chromosome. It seems probable that previously unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human beta globin cluster are removed by this deletion.

scholarly journals DNA sequence features in the establishing of H3K27ac

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 165
Author(s):  
Anatoliy Zubritskiy ◽  
Yulia A. Medvedeva
Keyword(s):  
Dna Sequence ◽  
Dna Sequences ◽  
Gc Content ◽  
Beta Globin ◽  
Similar Sequence ◽  
Sequence Features

The presence of H3K27me3 has been demonstrated to  correlate with the CpG content. In this work, we tested whether H3K27ac has similar sequence preferences. We performed a translocation of DNA sequences with various properties into a beta globin locus to control for the local chromatin environment. We demonstrate that H3K27ac is not linked to CpG content of the sequence, while extremely high GC-content may contribute to the establishment of this mark.

scholarly journals Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia

Blood ◽  
1990 ◽  
Vol 76 (10) ◽  
pp. 2132-2138 ◽  
Author(s):  
RJ Trent ◽  
BG Williams ◽  
A Kearney ◽  
T Wilkinson ◽  
PC Harris
Keyword(s):  
Dna Sequence ◽  
Globin Gene ◽  
Globin Genes ◽  
The Novel ◽  
Beta Globin ◽  
Gamma Delta ◽  
Beta Globin Gene ◽  
Clinical Phenotypes ◽  
Dna Deletion

Abstract The DNA deletion associated with an example of (epsilon gamma delta beta)zero thalassemia (Scottish-Irish type) was characterized. The deletion is approximately 205 kb in length and involves the epsilon, G gamma, A gamma, delta, and beta globin genes. The breakpoint is located 263 bp 3′ to exon 3 of the beta globin gene. An LI (KpnI) repeat element approximately 320 bp in size is found at the 3′ end of the novel DNA sequence. Different clinical phenotypes for three heterozygous neonates suggest that the deletion alone does not predict severity of (epsilon gamma delta beta)zero thalassemia at this age.

DNA sequence mapping in interphase and metaphase chromosomes by fluorescence in situ hybridization

1992 ◽  
Vol 50 (1) ◽  
pp. 496-497
Author(s):  
Barbara Trask ◽  
Susan Allen ◽  
Anne Bergmann ◽  
Mari Christensen ◽  
Anne Fertitta ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Dna Sequence ◽  
Dna Sequences ◽  
Dual Band ◽  
Nick Translation ◽  
Metaphase Chromosomes ◽  
Band Pass ◽  
Texas Red ◽  
Fluorescent Spot

Using fluorescence in situ hybridization (FISH), the positions of DNA sequences can be discretely marked with a fluorescent spot. The efficiency of marking DNA sequences of the size cloned in cosmids is 90-95%, and the fluorescent spots produced after FISH are ≈0.3 μm in diameter. Sites of two sequences can be distinguished using two-color FISH. Different reporter molecules, such as biotin or digoxigenin, are incorporated into DNA sequence probes by nick translation. These reporter molecules are labeled after hybridization with different fluorochromes, e.g., FITC and Texas Red. The development of dual band pass filters (Chromatechnology) allows these fluorochromes to be photographed simultaneously without registration shift.

Sign in / Sign up

Export Citation Format

Share Document