In the framework of the European BIOTECH project for sequencing the Saccharomyces cerevisiae genome, we have determined the nucleotide sequence of the left part of the cosmid clone 232 and the cosmid clone 233 provided by F. Galibert (Rennes Cedex, France). We present here 33,099 base pairs of sequence derived from the left arm of chromosome X of strain S288C. This sequence reveals 17 open reading frames (ORFs) with more than 299 base pairs, including the published sequences for ARG3, LIGTR/LIG1, ORF2, ACT3 and SCP160. Two other ORFs showed similarity with S. cerevisiae genes: one with the CAN1 gene coding for an arginine permease, and one with genes encoding the family of transcriptional activators containing a fungal Zn(II)2-Cys6 binuclear cluster domain like that found in Ppr1p or Ga14p. Both putative proteins contain a leucine zipper motif, the Can1p homologue has 12 putative membrane-spanning domains and a putative alpha 2-SCB-alpha 2 binding site. In a diploid disruption mutant of ORF J0922 coding for the transcriptional activator homologue, no colonies appeared before 10 days after transformation and then grew slowly. In contrast, haploid disruption mutants showed a growth phenotype like wild-type cells. One ORF showed weak similarity to the rad4 gene product of Schizosaccharomyces pombe and is essential for yeast growth. Five ORFs showed similarity to putative genes on the right arm of chromosome XI of S. cerevisiae. Two of them have similarity to each other and belong to a family of extracellular proteins that groups mammalian SCP/Tpx-1, insects Ag3/Ag5, plants PR-1 and fungi Sc7/Sc14.(ABSTRACT TRUNCATED AT 250 WORDS)
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Int J Surg Case Rep
January 2025
Surgery Department, Faculty of medicine and public health, Evangelical University in Africa, Bukavu, South Kivu, the Democratic Republic of the Congo; Surgery Department, Panzi General Referral Hospital, Bukavu, South Kivu, the Democratic Republic of the Congo; Surgery Department, Faculty of medicine, Kisangani University, Kisangani, Tsopo, the Democratic Republic of the Congo.
Introduction: Anorectal malformations (ARM) are an anatomically complex in which anorectum is either agenesic or communicates with neighboring organs. They are rarely found in adolescents. The aim of this study was to describe and discuss according to literature the three cases of ARM in adolescents.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Introduction And Importance: True brachial artery aneurysms are rather uncommon, due to their number of etiological factors. Besides inducing symptoms such as hand or digit ischemia, they may present as pulsative tumefactions and cause pain or paresthesias through nerve impingement. The diagnosis is based on duplex ultrasonography, CTA in the operational planning phase, and a physical examination.
View Article and Find Full Text PDFRev Paul Pediatr
January 2025
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.
Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome.
View Article and Find Full Text PDFRev Paul Pediatr
January 2025
Universidade Estadual do Oeste do Paraná, Cascavel, PR, Brazil.
Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder.
Case Description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented with a variety of craniofacial anomalies and malformations, including cardiac impairment, characterized by a cluster of malformations in the left ventricle in line with the diagnosis of Shone's complex.
Aberrant anatomical variation of the vertebral artery (VA) from an internal carotid artery (ICA) is considered a rare finding. The incidence of this phenomenon can lead to patients suffering from posterior circulation neurological deficit if the ICA becomes significantly diseased. VA atypical anatomical origin is considered one of the rare pathologies, not only precipitating neurovascular incidents but equally leading to severe difficulty in VA dissection and surgical exposure, especially in carotid artery procedures.
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