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We began analyzing https://www.nature.com/articles/5201345, but it redirected us to https://www.nature.com/articles/5201345. The analysis below is for the second page.

Title[redir]:
Determination of the ‘critical region’ for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR | European Journal of Human Genetics
Description:
Cri-du-chat (CDC, OMIM 123450) is a chromosomal syndrome that results from partial deletions on the short arm of chromosome 5. The clinical features of CDC normally include high-pitched cat-like cry, mental retardation, microcephaly, hypertelorism and epicanthic folds. The cat-like cry is the most prominent clinical characteristic in newborn children and is usually considered as diagnostic for the CDC syndrome. Using a strategy of ‘phenotype dissection’, the critical region for cat-like cry was mapped to the chromosomal segment 5p15.3–5p15.2 in previous reports. In this study, the distal breakpoints of two interstitial deletions in two clinical distinctive CDC patients are analysed, one with and one without the cat-like cry. Using PCR, the critical region for the cat-like cry is mapped to a short 640 kbp region on chromosome 5p. Genome analysis of this critical region reveals a gene-rich sequence containing five known genes, five putative genes and three spliced EST sequences, altogether 71 predicted exons. Three genes, FLJ25076, a homolog to a ubiquitin-conjugating enzyme UBC-E2, FLJ20303, a nucleolar protein NOP2, which may play a role in the regulation of the cell cycle and MGC5309, a protein with similarity to Nut2, a Drosophila transcriptional coactivator, have been characterized and expression profiles determined by quantitative PCR. These results suggest that one candidate gene, FLJ25076, encodes a ubiquitin-conjugated enzyme E2 type, which is locally expressed in thoracic and scalp tissues. The other two genes are expressed uniformly in all tissues tested, which suggest that they are housekeeping genes.

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Keywords {🔍}

region, cry, genes, catlike, case, critical, cdc, chromosome, pcr, dna, expression, sts, article, flj, gene, patients, markers, analysis, located, distal, cell, table, pubmed, syndrome, figure, sequence, google, scholar, deletions, clinical, features, protein, nature, mental, retardation, mapped, regions, cas, phenotype, facial, data, tissues, candidate, breakpoints, involved, marker, human, interstitial, expressed, criduchat,

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nature portfolio permissions reprints privacy policy nature cri-du-chat syndrome advertising cri-du-chat region ubiquitin-conjugating enzyme ubc-e2 open-reading frames mj-research ptc-200 functional genome research social media author information authors language tools ubiquitin-conjugating enzyme e2 mj-research wilhelm johannsen centre flj25076/ubc-e2 homolog protein nuclear envelope/endoplasmic reticulum ubiquitin-conjugating degradation pathway ubiquitin-mediated proteolytic pathway author correspondence time-resolved cryo-em nol1/nop2/sun family fr/seqanal/interfaces/genscan ubc-e2 homolog gene array-comparative genome hybrid rat steroid 5α-reductase genome-wide screen reveals de las penas china ubiquitin-conjugating enzyme conserved ubiquitin ligase full size image high-pitched monotone cry permissions somatic cell hybrid genomic data integration microarray-cgh analysis approaches ubc-e2 homolog development somatic cell hybrids real-time pcr ubiquitin-conjugating enzymes flj25076/ubc-e2 european economic area nucleic acid methyltransferase larger region including gene expression data

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         description:Cri-du-chat (CDC, OMIM 123450) is a chromosomal syndrome that results from partial deletions on the short arm of chromosome 5. The clinical features of CDC normally include high-pitched cat-like cry, mental retardation, microcephaly, hypertelorism and epicanthic folds. The cat-like cry is the most prominent clinical characteristic in newborn children and is usually considered as diagnostic for the CDC syndrome. Using a strategy of âphenotype dissectionâ, the critical region for cat-like cry was mapped to the chromosomal segment 5p15.3â5p15.2 in previous reports. In this study, the distal breakpoints of two interstitial deletions in two clinical distinctive CDC patients are analysed, one with and one without the cat-like cry. Using PCR, the critical region for the cat-like cry is mapped to a short 640âkbp region on chromosome 5p. Genome analysis of this critical region reveals a gene-rich sequence containing five known genes, five putative genes and three spliced EST sequences, altogether 71 predicted exons. Three genes, FLJ25076, a homolog to a ubiquitin-conjugating enzyme UBC-E2, FLJ20303, a nucleolar protein NOP2, which may play a role in the regulation of the cell cycle and MGC5309, a protein with similarity to Nut2, a Drosophila transcriptional coactivator, have been characterized and expression profiles determined by quantitative PCR. These results suggest that one candidate gene, FLJ25076, encodes a ubiquitin-conjugated enzyme E2 type, which is locally expressed in thoracic and scalp tissues. The other two genes are expressed uniformly in all tissues tested, which suggest that they are housekeeping genes.
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