scholarly journals Structure and function of ribosomal protein S4 genes on the human and mouse sex chromosomes.

1994 ◽  
Vol 14 (4) ◽  
pp. 2485-2492 ◽  
Author(s):  
A R Zinn ◽  
R K Alagappan ◽  
L G Brown ◽  
I Wool ◽  
D C Page
Keyword(s):  
Ribosomal Protein ◽  
Turner Syndrome ◽  
Cultured Cells ◽  
Single Gene ◽  
Placental Tissue ◽  
Normal Male ◽  
Human Phenotype ◽  
Flanking Sequences ◽  
Ribosomal Protein S4 ◽  
And Function

The human sex-linked genes RPS4X and RPS4Y encode distinct isoforms of ribosomal protein S4. Insufficient expression of S4 may play a role in the development of Turner syndrome, the complex human phenotype associated with monosomy X. In mice, the S4 protein is encoded by an X-linked gene, Rps4, and is identical to human S4X; there is no mouse Y homolog. We report here the organization of the human RPS4X and RPS4Y and mouse Rps4 genes. Each gene comprises seven exons; the positions of introns are conserved. The 5' flanking sequences of human RPS4X and mouse Rps4 are very similar, while RPS4Y diverges shortly upstream of the transcription start site. In chickens, S4 is encoded by a single gene that is not sex linked. The chicken protein differs from human S4X by four amino acid substitutions, all within a region encoded by a single exon. Three of the four substitutions are also present in human S4Y, suggesting that the chicken S4 gene may have arisen by recombination between S4X- and S4Y-like sequences. Using isoform-specific antisera, we determined that human S4X and S4Y are both present in translationally active ribosomes. S4Y is about 10 to 15% as abundant as S4X in ribosomes from normal male placental tissue and 46,XY cultured cells. In 49,XYYYY cells, S4Y is about half as abundant as S4X. In 49,XXXXY cells, S4Y is barely detectable. These results bear on the hypothesized role of S4 deficiency in Turner syndrome.

Structure and function of ribosomal protein S4 genes on the human and mouse sex chromosomes

1994 ◽  
Vol 14 (4) ◽  
pp. 2485-2492
Author(s):  
A R Zinn ◽  
R K Alagappan ◽  
L G Brown ◽  
I Wool ◽  
D C Page
Keyword(s):  
Ribosomal Protein ◽  
Turner Syndrome ◽  
Cultured Cells ◽  
Single Gene ◽  
Placental Tissue ◽  
Normal Male ◽  
Human Phenotype ◽  
Flanking Sequences ◽  
Ribosomal Protein S4 ◽  
And Function

The human sex-linked genes RPS4X and RPS4Y encode distinct isoforms of ribosomal protein S4. Insufficient expression of S4 may play a role in the development of Turner syndrome, the complex human phenotype associated with monosomy X. In mice, the S4 protein is encoded by an X-linked gene, Rps4, and is identical to human S4X; there is no mouse Y homolog. We report here the organization of the human RPS4X and RPS4Y and mouse Rps4 genes. Each gene comprises seven exons; the positions of introns are conserved. The 5' flanking sequences of human RPS4X and mouse Rps4 are very similar, while RPS4Y diverges shortly upstream of the transcription start site. In chickens, S4 is encoded by a single gene that is not sex linked. The chicken protein differs from human S4X by four amino acid substitutions, all within a region encoded by a single exon. Three of the four substitutions are also present in human S4Y, suggesting that the chicken S4 gene may have arisen by recombination between S4X- and S4Y-like sequences. Using isoform-specific antisera, we determined that human S4X and S4Y are both present in translationally active ribosomes. S4Y is about 10 to 15% as abundant as S4X in ribosomes from normal male placental tissue and 46,XY cultured cells. In 49,XYYYY cells, S4Y is about half as abundant as S4X. In 49,XXXXY cells, S4Y is barely detectable. These results bear on the hypothesized role of S4 deficiency in Turner syndrome.

Structure and expression of ribosomal protein genes in Xenopus laevis

1995 ◽  
Vol 73 (11-12) ◽  
pp. 969-977 ◽  
Author(s):  
Francesco Amaldi ◽  
Olga Camacho-Vanegas ◽  
Francesco Cecconi ◽  
Fabrizio Loreni ◽  
Beatrice Cardinali ◽  
...  
Keyword(s):  
Xenopus Laevis ◽  
Ribosomal Protein ◽  
Ribosomal Proteins ◽  
Translational Regulation ◽  
Cultured Cells ◽  
Structural Features ◽  
Ribosomal Protein Genes ◽  
Translation Apparatus ◽  
And Function

In Xenopus laevis, as well as in other vertebrates, ribosomal proteins (r-proteins) are coded by a class of genes that share some organizational and structural features. One of these, also common to genes coding for other proteins involved in the translation apparatus synthesis and function, is the presence within their introns of sequences coding for small nucleolar RNAs. Another feature is the presence of common structures, mainly in the regions surrounding the 5′ ends, involved in their coregulated expression. This is attained at various regulatory levels: transcriptional, posttranscriptional, and translational. Particular attention is given here to regulation at the translational level, which has been studied during Xenopus oogenesis and embryogenesis and also during nutritional changes of Xenopus cultured cells. This regulation, which responds to the cellular need for new ribosomes, operates by changing the fraction of rp-mRNA (ribosomal protein mRNA) engaged on polysomes. A typical 5′ untranslated region characterizing all vertebrate rp-mRNAs analyzed to date is responsible for this translational behaviour: it is always short and starts with an 8–12 nucleotide polypyrimidine tract. This region binds in vitro some proteins that can represent putative trans-acting factors for this translational regulation.Key words: ribosomal proteins, snoRNA, translational regulation, Xenopus laevis.

scholarly journals Unique Behavior and Function of the Mitochondrial Ribosomal Protein S4 (RPS4) in Early Dictyostelium Development

2003 ◽  
Vol 20 (12) ◽  
pp. 1455-1465 ◽  
Author(s):  
Koh-ichi Hosoya ◽  
Aiko Amagai ◽  
Junji Chida ◽  
Yasuo Maeda
Keyword(s):  
Ribosomal Protein ◽  
Mitochondrial Ribosomal Protein ◽  
Ribosomal Protein S4 ◽  
And Function

Functional equivalence of human X– and Y–encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome

1993 ◽  
Vol 4 (3) ◽  
pp. 268-271 ◽  
Author(s):  
Minoru Watanabe ◽  
Andrew R. Zinn ◽  
David C. Page ◽  
Takeharu Nishimoto
Keyword(s):  
Ribosomal Protein ◽  
Turner Syndrome ◽  
Functional Equivalence ◽  
Ribosomal Protein S4

A Mucin-Specific Protease Enables Molecular and Functional Analysis of Human Cancer-Associated Mucins

2018 ◽  
Author(s):  
Stacy A. Malaker ◽  
Kayvon Pedram ◽  
Michael J. Ferracane ◽  
Elliot C. Woods ◽  
Jessica Kramer ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Molecular Mechanisms ◽  
Cultured Cells ◽  
High Resolution Mass Spectrometry ◽  
Human Cancer ◽  
Glycosylation Sites ◽  
Bacterial Protease ◽  
Specific Protease ◽  
To Come ◽  
And Function

<div> <div> <div> <p>Mucins are a class of highly O-glycosylated proteins that are ubiquitously expressed on cellular surfaces and are important for human health, especially in the context of carcinomas. However, the molecular mechanisms by which aberrant mucin structures lead to tumor progression and immune evasion have been slow to come to light, in part because methods for selective mucin degradation are lacking. Here we employ high resolution mass spectrometry, polymer synthesis, and computational peptide docking to demonstrate that a bacterial protease, called StcE, cleaves mucin domains by recognizing a discrete peptide-, glycan-, and secondary structure- based motif. We exploited StcE’s unique properties to map glycosylation sites and structures of purified and recombinant human mucins by mass spectrometry. As well, we found that StcE will digest cancer-associated mucins from cultured cells and from ovarian cancer patient-derived ascites fluid. Finally, using StcE we discovered that Siglec-7, a glyco-immune checkpoint receptor, specifically binds sialomucins as biological ligands, whereas the related Siglec-9 receptor does not. Mucin-specific proteolysis, as exemplified by StcE, is therefore a powerful tool for the study of glycoprotein structure and function and for deorphanizing mucin-binding receptors. </p> </div> </div> </div>

scholarly journals The Drosophila engrailed and invected Genes: Partners in Regulation, Expression and Function

Genetics ◽  
1996 ◽  
Vol 142 (3) ◽  
pp. 893-906 ◽  
Author(s):  
Elizabeth Gustavson ◽  
Andrew S Goldsborough ◽  
Zehra Ali ◽  
Thomas B Kornberg
Keyword(s):  
Expression Pattern ◽  
Cultured Cells ◽  
Regulatory Region ◽  
Embryonic Lethality ◽  
Wild Type ◽  
Terminal Portion ◽  
Coding Sequence ◽  
Differential Effects ◽  
And Function ◽  
Redundant Functions

Abstract We isolated and characterized numerous engrailed and invected alleles. Among the deficiencies we isolated, a mutant lacking invected sequences was viable and phenotypically normal, a mutant lacking engrailed was an embryo lethal and had slight segmentation defects, and a mutant lacking both engrailed and invected was most severely affected. In seven engrailed alleles, mutations caused translation to terminate prematurely in the central or C-terminal portion of the coding sequence, resulting in embryonic lethality and segmentation defects. Both engrailed and invected expression declined prematurely in these mutant embryos. In wild-type embryos, engrailed and invected are juxtaposed and are expressed in essentially identical patterns. A breakpoint mutant that separates the mgrailed and invected transcription units parceled different aspects of the expression pattern to engrailed or invected. We also found that both genes cause similar defects when expressed ectopically and that the protein products of both genes act to repress transcription in cultured cells. We propose that the varied phenotypes of the engrailed alleles can be explained by the differential effects these mutants have on the combination of engrailed and invected activities, that engrailed and invected share a regulatory region, and that they encode redundant functions.

scholarly journals X/XY Chromosome Mosaicism: Turner Syndrome and Other Clinical Conditions

2009 ◽  
Vol 63 (1-2) ◽  
pp. 1-4
Author(s):  
Irena Andriuškevičiūtė ◽  
Loreta Šalomskienė ◽  
Lina Jurkėnienė ◽  
Algimantas Sinkus
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Wide Spectrum ◽  
Normal Male ◽  
Chromosome Mosaicism ◽  
Lymphocyte Cultures ◽  
Nosological Entity ◽  
The One ◽  
Clinical Conditions ◽  
Pierre Robin

X/XY Chromosome Mosaicism: Turner Syndrome and Other Clinical Conditions The 45,X/46,XY mosaicism shows a wide spectrum of phenotypes ranging from females with Turner syndrome, male or female pseudohermaphroditism, to appearently normal male development. Chromosome anomalies accompanying Turner syndrome were found in lymphocyte cultures of 236 patients. Chromosomal analysis revealed the karyotype 45,X in 118 (50.0%) patients. X monosomy mosaics or structural rearrangements of the X chromosome was established in 112 (47.5%) patients. The Y chromosome was found in six (2.5%) patients with typical features of Turner syndrome. In five mosaics 45,X/46,XY the proportion of the XY clone ranged from 46% to 76%. In one Turner syndrome patient only 47,XYY cells were found (solely blood culture investigated). In most cases of 45,X/46,XY mosaicism, the cause is considered to be the loss of the Y chromosome because of nondisjunction after normal disomic fertilisation. Five other patients with X/XY chromosome mosaicism showed mixed gonadal dysgenesis (two patients), one male pseudohermafroditism, one male with Pierre Robin syndrome, and one normal male phenotype. In two non Turner syndrome patients nondisjunction of the primary clone 46,XY was obvious and resulted in mosaicism 45,X/46,XY/47,XYY, the one patient contained dicentric Y. The similarities between X/XY Turner syndrome and other nosological entity of females possessing Y chromosome — the Swyer syndrome — are discussed.

scholarly journals A strategy to detect and isolate an intron-containing gene in the presence of multiple processed pseudogenes

1989 ◽  
Vol 86 (17) ◽  
pp. 6691-6695 ◽  
Author(s):  
B Davies ◽  
S Feo ◽  
E Heard ◽  
M Fried
Keyword(s):  
Ribosomal Protein ◽  
Recombinant Dna ◽  
Single Gene ◽  
Ribosomal Protein Gene ◽  
Pcr Primers ◽  
Pcr Product ◽  
Dna Libraries ◽  
Processed Pseudogenes ◽  
Polymerase Chain ◽  
Genomic Dna Sequence

We have devised a strategy that utilizes the polymerase chain reaction (PCR) for the detection and isolation of intron-containing genes in the presence of an abundance of processed pseudogenes. The method depends on the genomic DNA sequence between the PCR primers spanning at least one intron in the gene of interest, resulting in the generation of a larger intron-containing PCR product in addition to the smaller PCR product amplified from the intronless pseudogenes. A unique intron probe isolated from the larger PCR product is used for the detection of intron-containing clones from recombinant DNA libraries that also contain pseudogene clones. This method has been used successfully for the selective isolation of an intron-containing rat L19 ribosomal protein gene in the presence of multiple pseudogenes. Analysis of a number of mammalian ribosomal protein multigene families by PCR indicates that they all contain only a single gene with introns.

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