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E Back

Publications and source records attributed to E Back.

At least 37 records · Page 2Linked to original sources
PubMed1988

A BrdU-requiring fragile site on chromosome 12.

A BrdU-requiring fragile site, fra(12)(q24.2), on human chromosome 12 of some individuals is reported. This fragile site is inherited in a Mendelian codominant fashion and does not seem to be associated with any physical or mental abnormality in carriers. It was mostly observed as a chromatid gap: no acentric fragments, triradials or deleted chromosomes were found. The fra(12)(q24.2) was expressed in 34%-48% of metaphases in lymphocyte cultures from carriers when BrdU and FdU were added 6.5 h before harvest, while the expression ranged between 5% and 20% when the cultures were treated with BrdU alone. The fra(12)(q24.2) represents the second BrdU-requiring rare fragile site described on human chromosomes.

Bromodeoxyuridine↗
PubMed1988

Isolation of cDNA clones coding for spinach nitrite reductase: complete sequence and nitrate induction.

The main nitrogen source for most higher plants is soil nitrate. Prior to its incorporation into amino acids, plants reduce nitrate to ammonia in two enzymatic steps. Nitrate is reduced by nitrate reductase to nitrite, which is further reduced to ammonia by nitrite reductase. In this paper, the complete primary sequence of the precursor protein for spinach nitrite reductase has been deduced from cloned cDNAs. The cDNA clones were isolated from a nitrate-induced cDNA library in two ways: through the use of oligonucleotide probes based on partial amino acid sequences of nitrite reductase and through the use of antibodies raised against purified nitrite reductase. The precursor protein for nitrite reductase is 594 amino acids long and has a 32 amino acid extension at the N-terminal end of the mature protein. These 32 amino acids most likely serve as a transit peptide involved in directing this nuclear-encoded protein into the chloroplast. The cDNA hybridizes to a 2.3 kb RNA whose steady-state level is markedly increased upon induction with nitrate.

Amino Acid Sequence↗
PubMed1988

Molecular cloning of complementary DNA encoding maize nitrite reductase: molecular analysis and nitrate induction.

Complementary DNA has been isolated that codes for maize nitrite reductase (NiR) by using the corresponding spinach gene (E Back et al. 1988 Mol Gen Genet 212:20-26) as a heterologous probe. The sequences of the complementary DNAs from the two species are 66% homologous while the deduced amino acid sequences are 86% similar when analogous amino acids are included. A high percentage of the differences in the DNA sequences is due to the extremely strong bias in the corn gene to have a G/C base in the third codon position with 559/569 codons ending in a G or C. Using a hydroponic system, maize seedlings grown in the absence of an exogenous nitrogen source were induced with nitrate or nitrite. Nitrate stimulated a rapid induction of the NiR mRNA in both roots and leaves. There is also a considerable induction of this gene in roots upon the addition of nitrite, although under the conditions used the final mRNA level was not as high as when nitrate was the inducer. There is a small but detectable level of NiR mRNA in leaves prior to induction, but no constitutive NiR mRNA can be seen in the roots. Analysis of genomic DNA supports the notion that there are at least two NiR genes in maize.

Journal Article↗
PubMed1987

Localization of the in vivo and in vitro transcription initiation site and comparative analysis of the flanking sequences in the two main size classes of Ascaris lumbricoides rDNA.

An accurate in vitro transcription system which utilizes the cloned 8.8 and 8.4 kb size classes of Ascaris rRNA genes (pAlr8 and pAlr13) and two kinds of cellular extracts from Ascaris oogonia has been established. Both rDNA containing plasmids are efficiently transcribed in vitro by RNA polymerase I from a unique site of rDNA which corresponds to the in vivo initiation site. The in vitro transcription product has a triphosphorylated 5'-end and starts on a G localized 414 bp (pAlr8) upstream of the beginning of the mature 18S rRNA. The promoter region has been delimited by testing the in vitro template activity of a series of restriction fragments. The region essential for the accuracy of initiation is contained within nucleotides -72 to +65, but full efficiency of transcription requires the additional presence of the region from nucleotides +66 to +84. The sequences upstream from position -72 do not appear to modulate the efficiency of specific in vitro initiation. Furthermore, the sequences flanking the transcription initiation site from position -1500 to +570 have been determined in the two cloned representatives of the two rDNA main size classes.

Animals↗
PubMed1987

Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis.

A search for Y-specific DNA sequences has been performed in a sample of seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case and compared with a sample of 11 XX males. Using six Y-specific DNA probes no hybridization signal was obtained in the hermaphrodite group; in contrast, all XX males gave a positive signal with at least one probe. This difference is statistically highly significant. We conclude that the aetiology of true hermaphroditism is different from that of the XX male syndrome. As all cases of the hermaphrodite group are positive for the serological sex-specific antigen (Sxs) it is concluded that this antigen can be present even in the absence of Y-specific DNA.

DNA↗
PubMed1987

Trisomy 22 in a newborn with multiple malformations.

A case of complete trisomy 22 in a live-born female child with multiple malformations is reported. The karyotype of the index patient had 46 chromosomes, with one chromosome 22 missing and one supranumerary metacentric chromosome. Different banding methods and in situ hybridization revealed that the extra chromosome consists of the long arms and a part of the short arms of two chromosomes 22. Our report supplies further proof that a fetus with complete trisomy 22 can occasionally survive to term, but the condition is not compatible with life over a long period.

Abnormalities, Multiple↗
PubMed1986

[Terminal renal failure in aniridia-Wilms syndrome].

Missing iris combined with debility and incidence of Wilms' tumor seem to be a complex syndrome which appears in 1:100,000 people. It is caused by an interstitial deletion on the short arm of chromosome no. 11. We refer to a patient who developed end-stage renal failure caused by a focal-segmental nephrosclerosis. He underwent renal transplantation because chronic hemodialysis was impossible due to his lack of compliance. The deletion of chromosome 11 could be recognized by chromosomal analysis after transplantation. An aniridia-Wilms' tumor association (AWTA) with following focal segmental nephrosclerosis could be diagnosed.

Adult↗
PubMed1986

Familial pericentric inversion of chromosome 12.

A pericentric inversion in one of the chromosomes 12, found in two families living in the same region, is described. This inversion was detected during routine chromosomal analysis in two separate laboratories. The breakpoints were at 12p112 and 12q13. The inverted segment represented approximately 20% of the length of chromosome 12. Twenty nine descendants of carriers of the inversion were investigated, and the inversion was present in 23 of them. The other six descendants showed a normal karyotype. After correction for sample bias with the single selection scheme, a segregation ratio of 3:1 was estimated, indicating that the inverted chromosome 12 was preferentially transmitted. All the carriers of the inversion were phenotypically normal, without noticeable fertility disturbances.

Chromosome Banding↗
PubMed1986

[Diaphragmatic defect in trisomy 13].

Congenital diaphragmatic defect is often combined with other malformations that are severe or fatal. The rare finding of a congenital diaphragmatic defect in a newborn with trisomy 13 is reported. The newborn died within 2 days. Postmortem examination showed typical malformations due to trisomy 13 besides a diaphragmatic defect of left retrosternal position. Karyotype revealed a 13/14 translocation of trisomy 13.

Chromosomes, Human, 13-15↗
PubMed1984

Structural organization of the two main rDNA size classes of Ascaris lumbricoides.

The two main rDNA size classes in the genome of Ascaris lumbricoides consist of 8.8 kb and 8.4 kb long repeating units present in a quantitative ratio of roughly 10:1. They both contain the genes coding for 18 , 5.8S and 26S ribosomal RNAs. The length heterogeneity is due to a 450 bp long spacer region localized in the longer repeating unit which begins 870 bp upstream of the 5'-end 18S gene. A few additional microheterogeneities in base sequence occur at the 5'-end of the 26S gene. The 18S, 5.8S and 26S coding regions have been mapped on both the 8.8 kb and 8.4 kb repeating units and the localization of the 5'- and 3'-ends of the 18S and 26S genes has been performed by S1 protection. No intervening sequences are present in either coding region of the two main rDNA size classes.

Animals↗
PubMed1984

Chromosomal arrangement of the two main rDNA size classes of Ascaris lumbricoides.

The two main rDNA size classes of 8.8 kb and 8.4 kb length from Ascaris lumbricoides, which comprise more than 95% of the total nuclear rDNA, are arranged as internally homogeneous clusters and are not intermingled with each other. The rRNA genes are present on a single autosomal locus as could be demonstrated by in situ hybridization of fluorochrome-labelled 18S and 26S rRNA to metaphase chromosomes of spermatocytes I. The quantitative ratio of the two rDNA size classes varies largely between individuals being on the average roughly 10:1 in the investigated wild population of A. lumbricoides. However, there are no differences in the hybridization pattern of the two rDNAs in the DNA eliminating nematode A. lumbricoides between germ line and somatic cells in any of the individuals that have been analyzed.

Animals↗
PubMed1984

Intervening sequences in the ribosomal RNA genes of Ascaris lumbricoides: DNA sequences at junctions and genomic organization.

An rDNA size class in the genome of the nematode Ascaris lumbricoides is described which is interrupted by a 4.5-kb long intervening sequence located in the 26S coding region. This molecular form occurs in approximately 15 copies per haploid genome and amounts to approximately 5% of the total nuclear rDNA. Intervening sequences are present only in the 8.8-kb rDNA, but not in the 8.4-kb rDNA repeating units of A. lumbricoides. Cloning of the interrupted rDNA units revealed, in addition to the main 4.5-kb insertion, shorter intervening sequences of 4-kb and 119-bp length. Both shorter rDNA forms are present in the single copy range of the haploid genome. Sequence analyses of the intervening sequence/rDNA junctions show an identical right-hand junction for all of the three different rDNA forms. The two shorter intervening sequences are a coterminal subset of the right-hand end of the main 4.5-kb insertion, whereas all three insertions have a different left-hand junction with the coding region of rDNA. Each intervening sequence is flanked by a short direct repeat of variable length, being only once present in the uninterrupted rDNA. The intervening sequences of A. lumbricoides show striking similarity to the organization of type I insertion family in dipteran flies, even though they are inserted at different positions in the 26S coding region. Additional rDNA intervening sequences may be present outside of the rDNA cluster, but in not more than 15-20 homologous copies per haploid genome.

Animals↗
PubMed1984

Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15.

A 20-day-old female neonate was admitted with symptoms caused by a large ventricular septal defect which was subsequently confirmed angiographically. Other clinical findings were pre- and postnatal growth retardation, microcephaly, dysmorphism of ears, fingers and feet. Cytogenetic analysis revealed a ring chromosome 15. Despite a palliative banding operation of the pulmonary artery, the infant succumbed to complications of her congenital heart disease in the 4th month of life.

Abnormalities, Multiple↗
PubMed1982

Nucleotide sequence of satellite DNA contained in the eliminated genome of Ascaris lumbricoides.

Several restriction endonuclease fragments isolated from highly repetitive satellite DNA of the chromatin eliminating nematode Ascaris lumbricoides var. suum have been cloned. Each type of restriction fragment corresponds to a different variant of the same related ancestral sequence. These variants differ by small deletions, insertions and single base substitutions. Restriction and DBM blot analyses show that members of the same variant class are tandemly linked and therefore are physically separated from other variant classes. A comparison of all the determined sequences establishes a 121 bp long and AT rich consensus sequence. There is evidence for an internal short range periodicity of 11 bp length, indicating that the Ascaris satellite initially may have evolved from an ancestral undecamer sequence. The satellite DNA sequences are mostly but not entirely eliminated from the presumptive somatic cells during chromatin diminution. We have no evidence for transcriptional activity of satellite DNA at any stage or tissue analyzed.

Animals↗
PubMed1982

Molecular cloning and sequence analysis of highly repetitive DNA sequences contained in the eliminated genome of Ascaris lumbricoides.

High molecular weight DNA from germ line and somatic cells of the DNA eliminating nematode Ascaris lumbricoides has has been isolated and digested with different restriction enzymes. The resulting DNA fragments were separated by agarose gel electrophoresis. Germ line but not somatic DNA shows a prominent band about 120 bp long as well as multiples of that length. These fragments are shown to be monomers and multimers of a highly repetitive satellite DNA, which is eliminated mostly but not completely during the process of chromatin diminution. Restriction digests, hybridization experiments and sequence analysis revealed that this eliminated satellite is composed of a whole set of different but related variant classes, all of them showing the same repeating unit length of about 120 bp. Members of the same variant class are tandemly linked and therefore physically separated from other variant classes. All satellite sequences can be derived from the same common ancestor sequence, differing only by base substitutions, insertions and deletions. There is no evidence for transcription of satellite DNA at any stage and tissues analyzed.

Animals↗
PubMed1980

Partial monosomy 22pter leads to q11 in a newborn with the clinical features of trisomy 13 syndrome.

In a female newborn with the clinical and postmortem findings of Pätau's syndrome no trisomy 13 could be found by chromosomal investigation. Rather, the karyotype 45,XX,-11,-22,+(11;22) (p15;q11) was ascertained by GTG-,RFA-and TFA-banding. The long arm of one chromosome 22 is translocated upon the short arm of one chromosome 11, and the remaining part of the derivative chromosome 22 is lost. The child therefore is monosomic for 22pter leads to q11 and probably for the telomeric region of 11p15. Since both parents possess normal karyotypes, it is a de novo translocation. The case in point illustrates that the more correlation of a given phenotype to a specific karyotype is not possible in all cases.

Chromosomes, Human, 13-15↗