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Two cases of inferior vena cava duplication with their CT findings and a review of the literature

100%

Tore H. G., Tatar I., Celik H. H., Oto A., Aldur M. M., Denk C. C.

Folia Morphologica

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2005

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tom 64

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nr 1

55-58

Duplication of the inferior vena cava (IVC) is the most common anomaly to affect the vena cava. Variations in the IVC are diagnosed in routine dissection studies, in retroperitoneal surgeries, or in computerised tomography (CT) sections ordered for various reasons. In this paper we present two cases of a double IVC together with the CT findings. The duplication might have occurred during embryological development. Although venous anomalies are rare, they have particular importance with respect to the interruptions that may occur during retroperitoneal and thoracic surgery or in the treatment of thrombo-embolic disease.

2

Genomic distribution of genes encoding 68 cytoplasmic ribosomal protein families in rice

75%

Agarwal S. M., Jain M., Grover A.

Acta Physiologiae Plantarum

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2005

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tom 27

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nr 4A

Completion of rice genome sequencing has necessitated identification of transcripts encoded by the genome and their corresponding functions. In the present study we have catalogued cytoplasmic ribosomal protein complement of rice genome corresponding to 68 families. Mining TIGR (The Institute for Genomic Research) rice database and unigene sequences available from National Centre for Biotechnology Information (NCBI) produced a non-redundant set of these sequences. This resulted in identification of 209 candidate r-proteins of which 22 have not been reported previously. The number of genes per family ranges from 1 to 8 distributed throughout the genome with maximum occurrence at chromosome 7. Mapping of r-proteins on BAC clones revealed several small clusters of genes. Unigene sequences correspondtng to most of the reported r-proteins were identified indicating these genes are being expressed.

3

Successful duplication of chromosomal segments of barley 5 and 6 chromosomes

75%

Sodkiewicz T., Sodkiewicz W., Hagberg A.

Prace Naukowe Uniwersytetu Śląskiego w Katowicach

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1998

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tom 1696

4

DNA methylation analysis of a de novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome

63%

Myszka A., Karpinski P., Makowska I., Lassota M., Przelozna B., Slezak R., Sasiadek M. M.

Journal of Applied Genetics

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2010

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tom 51

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nr 3

We report on a 13-month-old girl showing dysmorphic features and a delay in psychomotor development. She was diagnosed with a balanced de novo translocation 46,X,t(X; 13)(p 11,2; p 13) and non-random inactivation of the X chromosome. FISH analysis, employing the X chromosome centromere and XIST-region-specific probes, showed that the XIST locus was not involved in the translocation. Selective inactivation of paternal X, which was involved in translocation, was revealed by the HUMARA assay. The pattern of methylation of 5 genes located within Xp, which are normally silenced on an inactive X chromosome, corresponded to an active (unmethylated) X chromosome. These results revealed that in our proband the X chromosome involved in translocation (Xt) was preferentially inactivated. However, genes located on the translocated Xp did not include XIST. This resulted in functional Xp disomy, which most probably accounts for the abnormal phenotype in our patient.

5

The differential expression of ribosomal 18S RNA paralog genes from the chaetognath Spadella cephaloptera

63%

Barthelemy R. M., Grino M., Pontarotti P., Casanova J.-P., Faure E.

Cellular and Molecular Biology Letters

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2007

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tom 12

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nr 4

573-583

Chaetognaths constitute a small marine phylum of approximately 120 species. Two classes of both 18S and 28S rRNA gene sequences have been evidenced in this phylum, even though significant intraindividual variation in the sequences of rRNA genes is unusual in animal genomes. These observations led to the hypothesis that this unusual genetic characteristic could play one or more physiological role(s). Using in situ hybridization on the frontal sections of the chaetognath Spadella cephaloptera, we found that the 18S Class I genes are expressed in the whole body, with a strong expression throughout the gut epithelium, whereas the expression of the 18S Class II genes is restricted to the oocytes. Our results could suggest that the paralog products of the 18S Class I genes are probably the “housekeeping” 18S rRNAs, whereas those of class II would only be essential in specific tissues. These results provide support for the idea that each type of 18S paralog is important for specific cellular functions and is under the control of selective factors.

6

A rare variation of the posterior cranial fossa: duplicated falx cerebelli, occipital venous sinus, and internal occipital crest

63%

Shoja M. M., Tubbs R. S., Khaki A. A., Shokouhi G.

Folia Morphologica

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2006

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tom 65

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nr 2

171-174

Folds of the meningeal layer of the dura mater, the falx cerebri and tentorium cerebelli, traverse the vertebrate intracranial cavity and thus compartmentalise the brain. The falx cerebelli, another dural fold, is found in the posterior cranial fossa and attaches to the inferior aspect of the tentorium cerebelli and to the internal occipital crest. We present a case of a duplicated falx cerebelli, occipital venous sinus and internal occipital crest that was detected upon routine dissection of a male cadaver. Since haemorrhage of a dural venous sinus can be a fatal complication of posterior cranial fossa surgery, knowledge of venous sinus variations in this region may prevent unpredictable complications during intracranial procedures.

7

KINKY POLLEN and POKY POLLEN TUBE are two novel genes required for tip growth and duplicated in the Arabidopsis genome

63%

Lobstein E., Guyon A., Procissi A., Bonhomme S.

Acta Biologica Cracoviensia. Series Botanica

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2003

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tom 45

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nr 1

Screening of male gametophytie mutants from the Versailles collection of T-DNA transformants allowed us to isolate and characterize two novel genes: KINKY POLLEN (KIP) and POKY POLLEN TUBE (POK), which are required for correct tip growth in Arabidopsis thaliana. As KIP and POK are expressed in all plant tissues, though to a higher level in pollen and roots, their roles may not be restricted to tip growth only, but might extend to more general elongation mechanisms. Both genes are duplicated in the Arabidopsis genome. Specific roles for each duplicate, indicated by mutant phenotypes, will be discussed. Moreover, KIP and POK proteins have putative orthologs in all eukaryotes investigated, suggesting that they may be crucial proteins required for correct polar growth in all eukaryotic species.

8

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The quantitative PCR technique resolves ambiguities concerning a small rearrangement of human chromosome 6q12-13

63%

Nowacka J., Helszer Z., Walter Z., Plucienniczak A., Kaluzewski B.

Journal of Applied Genetics

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2001

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tom 42

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nr 4

9

Influence of structural rearrangements in 6 and 7 barley chromosomes [Hordeum vulgare L.] on seedlings susceptibility to Fusarium infection

63%

Sodkiewicz T., Wisniewska H., Chelkowski J.

Genetica Polonica

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1994

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tom 35B

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