Nucleotide sequence analysis of the delta beta-globin gene region in humans.

Poncz, Mortimer; Schwartz, Elias; Ballantine, M; Surrey, Saul

doi:10.1016/s0021-9258(17)44270-0

Cited by 132 publications

(3 citation statements)

References 62 publications

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“…or greater in length, with no interruptions, another 3 that have interruptions of 1 base pair, and one "monster" region 170 pyrimidines in length (Poncz et al, 1980) with two single-base interruptions. Of these very long strings, 11 are in intergenic or flanking regions, 1 is in an intron (the second intron of the gene), and there are none in coding regions.…”

Section: Resultsmentioning

confidence: 99%

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

Behe¹

1987

Biochemistry

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The DNA sequence of the human beta-globin region, comprising over 67 kilobase pairs, has been analyzed for the occurrence of strings of contiguous purine or pyrimidine residues. Tracts of 10 or more contiguous residues are found 4 times more frequently than would be expected with a random distribution of bases, so that a long string occurs at an average of every 250 base pairs. A survey of six other human gene sequences, totaling 86 kilobase pairs, shows a remarkably similar result. No such overrepresentation of contiguous purine or pyrimidine residues is found in the bacteriophages lambda or T7.

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Section: Resultsmentioning

confidence: 99%

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

Behe¹

1987

Biochemistry

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“…Upon binding tightly to the (AT) 9 T 5 sequence, BP-1 represses the ␤-globin expression, thus decreasing the HbS production in the case of ␤ S -genes and contributing to the mild course of the disease. The microsatellite occurs as (AT) 7 T 7 in all other ␤ S -haplotypes as well as in many ␤-thalassemia and normal haplotypes [11], and all these cases have a low binding affinity to the BP-1 protein. We tested our two ␤ S /␤-thalassemia patients for the XmnI polymorphism and the AT x T y microsatellite sequence.…”

Section: Discussionmentioning

confidence: 99%

HbS/βdel-thalassemia associated with high levels of hemoglobins A2 and F in a Turkish family

1998

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Beta-thalassemia and sickle cell disease (SCD) are common disorders in Turkey. Compound heterozygosity for these two disorders (betaS/beta-thalassemia) is encountered frequently. In this report we present hematological and molecular data of two Turkish siblings with betaS/beta(del)-thalassemia caused by a 290 base pair (bp) deletion and associated with increased levels of hemoglobin A2 (HbA2) and hemoglobin F (HbF). Clinical analysis of the two patients showed a mild course of the disease. Haplotypic factors involved in increasing the levels of HbF were analyzed. The two patients showed no changes from the normal sequences at the XmnI site of Ggamma-globin promoter and the (AT)xTy microsatellite 5' to the beta-globin mRNA cap site. The removal of the region between positions -125 to +78 relative to the beta-globin gene mRNA cap site by the 290 bp deletion is thought to allow the beta-locus control region to interact with the promoters of the delta- and gamma-globin genes, leading to increased HbA2 and HbF levels.

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“…SAVATIER et al (1985) sequenced a 5500 base-pair fragment including the 5' flanking region of the pglobin gene in chimpanzee. Comparing this sequence with the corresponding sequence in human (PONCZ et al 1983), they found four repeated sequences (RSI-RS4) whose repeat numbers vary between the two species. Three of them (RS1-RS3) are also found in macaque (SAVATIER et al 1987a).…”

Section: Statistical Testmentioning

confidence: 99%

Persistence of repeated sequences that evolve by replication slippage.

Tachida¹,

Iizuka²

1992

Genetics

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The evolution of short repeated sequences by replication slippage under the assumption of selective neutrality is modeled using a linear birth and death process. The equilibrium distribution, the distribution of the life expectancy of a repeated sequence when the process starts from two repeats, the age distribution of repeats, the probability of obtaining two genes with i and j copies which diverged t generations ago and the conditional variance of copy number given the repeat number is more than one are computed. The distributions of life expectancy and age are shown to have long tails. Also the statistic which estimates the conditional variance is shown to have a large coefficient of variation. Using these theoretical results, we develop an approximate test of our model and analyze persistent repeated sequences found in the primate beta-globin gene region and Oenothera chloroplast DNA which are polymorphic within species. We found one sequence in Oenothera chloroplast DNA which does not fit to our neutral model.

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Nucleotide sequence analysis of the delta beta-globin gene region in humans.

Cited by 132 publications

References 62 publications

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

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

HbS/βdel-thalassemia associated with high levels of hemoglobins A2 and F in a Turkish family

Persistence of repeated sequences that evolve by replication slippage.

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