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Chromosome Duplication (chromosome + duplication)
Selected AbstractsIdentification of RAPD markers linked to recessive genes conferring siliqua shatter resistance in Brassica rapaPLANT BREEDING, Issue 6 2003O. Mongkolporn Abstract Shattering of siliquae causes significant seed loss in canola (Brassica napus) production worldwide. There is little genetic variation for resistance to shatter in canola and, hence, the trait has been studied in B. rapa. Previous studies have shown two randomly segregating recessive genes to be responsible for shatter resistance. Three random amplified polymorphic DNA markers were identified as being linked to shatter resistance using bulked segregant analysis in a F3B. rapa population. The population was derived from a cross between a shatter-susceptible Canadian cultivar and a shatter-resistant Indian line. Of the three markers, RAC-3900 and RX-71000 were linked to recessive sh1 and sh2 alleles, and SAC-201300 was linked to both dominant Sh1 and Sh2 alleles. The common marker for the dominant wild-type allele for the two loci was explained to have resulted from duplication of an original locus and the associated markers through chromosome duplication and rearrangements in the process of evolution of the modern B. rapa from its progenitor that had a lower number of chromosomes. Segregation data from double heterozygous F3 families, although limited, indicated the markers were not linked to each other and provided further evidence for the duplication hypothesis. [source] Transient neonatal diabetes mellitus type 1,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 3 2010Deborah J.G. Mackay Abstract Transient neonatal diabetes mellitus type 1 (TNDM1) is a rare but remarkable form of diabetes which presents in infancy, resolves in the first months of life, but then frequently recurs in later life. It is caused by overexpression of the imprinted genes PLAGL1 and HYMAI on human chromosome 6q24. The expression of these genes is normally restricted to the paternal allele as a result of maternal DNA methylation. TNDM1 is not associated with mutation of PLAGL1 or HYMAI, but rather with their overexpression via uniparental disomy, chromosome duplication, or relaxation of imprinting. Study of patients with TNDM1 has provided valuable insights into the causes of imprinting disorders. Over half of patients with maternal hypomethylation at the TNDM1 locus have additional hypomethylation of other maternally methylated imprinted genes throughout the genome, and the majority of these patients have mutations in the transcription factor ZFP57. TNDM1 with maternal hypomethylation has also been observed in patients conceived by assisted reproduction, and in discordant monozygotic twins. The variable clinical features of TNDM1 may be associated with variation in the nature of the underlying epigenetic and genetic mutations, and future study of this disorder is likely to yield further insights not only into the biological mechanisms of imprinting, but also into the contribution of epigenetics to diabetes. © 2010 Wiley-Liss, Inc. [source] Cytological studies on induced meiogynogenesis in Japanese flounder Paralichthys olivaceus (Temminck et Schlegel)AQUACULTURE RESEARCH, Issue 6 2009Jilun Hou Abstract The cytological process of induced gynogenetic development and subsequent chromosome duplication by a cold shock treatment was observed in Japanese flounder Paralichthys olivaceus (Temminck et Schlegel). Mature eggs were at the metaphase of the second meiosis when inseminated with ultraviolet (UV)-irradiated sperm of red sea bream Pagrus major. After the beginning of cold shock treatment, the previously visible spindle became invisible, probably due to the side effect caused by cold shock treatment. The chromosomes at the centre of the metaphase plate were condensed. This condition continued during the duration of the cold shock treatment and several minutes after it. The release of the second polar body was blocked and it developed into a female-like pronucleus. Then, it fused with the female pronucleus to generate a diploid zygotic nucleus, and the egg exhibited the first mitosis. Consequently, the haploid female chromosome set of the egg was doubled by the inhibition of the second polar body release. There was a significant delay in developmental time in the gynogenetic eggs when compared with that in the normal eggs. From the time of insemination to early cleavage, the UV-irradiated heterospecific sperm nucleus remained condensed. [source] New chromosome reports in the subtribes Diocleinae and Glycininae (Phaseoleae: Papilionoideae: Fabaceae)BOTANICAL JOURNAL OF THE LINNEAN SOCIETY, Issue 2 2008SHIRLEY M. ESPERT The base chromosome number of x = 11 is the most probable in all the subtribes included in tribe Phaseoleae, although some aneuploid reduction is evident in Collaea and Galactia (Diocleinae) and chromosome duplications are seen in Amphicarpaea, Cologania and Glycine (Glycininae). The aims of this study were to improve the cytological knowledge of some species of Collaea and Galactia and to examine the anomalous counts reported for Calopogonium (Glycininae) and verify its taxonomic position. In addition, a molecular phylogeny was constructed using nuclear ribosomal DNA sequences (internal transcribed spacer region), and the chromosome number was optimized on the topology. In this work, the chromosome counts for Galactia lindenii, Galactia decumbens and Collaea cipoensis (all 2n = 20), and Calopogonium sericeum (2n = 22) are reported for the first time. The new reports for Galactia and Collaea species are in agreement with the chromosome number proposed for subtribe Diocleinae. The study rejects the concept of a cytologically anomalous Calopogonium and, based on the phylogenetic analysis, corroborates the position of this genus within subtribe Glycininae. The ancestral basic chromosome number of x = 11 proposed for Phaseoleae is in agreement with the evolutionary pathway of chromosome numbers analysed in this work. © 2008 The Linnean Society of London, Botanical Journal of the Linnean Society, 2008, 158, 336,341. [source] Human embryonic stem cell genes OCT4, NANOG, STELLAR, and GDF3 are expressed in both seminoma and breast carcinomaCANCER, Issue 10 2005Uche I. Ezeh M.D. Abstract BACKGROUND The seminoma class of testicular germ cell tumor (TGCT) are characterized by a morphological resemblance to primordial germ cells (PGCs) or gonocytes, and chromosome duplications at 12p. Recently, it was determined that human embryonic stem cells (hESCs) express genes in common with PGCs, and that three of these genes, GDF3, STELLAR, and NANOG, are located on 12p. The current study was designed to identify whether expression of these 12p genes were elevated in seminoma relative to normal testis, and to determine whether elevated expression was unique to seminoma. METHODS Real-time polymerase chain reaction (PCR) and immunohistochemistry were used to assess gene expression in seminoma samples relative to normal testis and endpoint PCR was used to identify the presence or absence of these genes in breast carcinoma. RESULTS GDF3 expression was increased in eight of nine seminomas compared with normal testis, whereas NANOG, OCT4, or both were expressed at the highest levels in seminoma compared with all other markers analyzed. In addition, the NANOG protein was expressed in the majority of seminoma cells. The adult meiotic germ cell markers BOULE and TEKT1 were undetectable in seminoma, whereas the embryonic and adult germ cell markers DAZL and VASA were significantly reduced. Analysis of these markers in breast carcinoma and the MCF7 breast carcinoma cell line revealed that a core hESC-transcriptional profile could be identified consisting of OCT4, NANOG, STELLAR, and GDF3 and that NANOG protein could be detected in breast carcinoma. CONCLUSIONS These observations suggest that seminoma and breast carcinoma express a common stem cell profile and that the expression of DAZL and VASA in seminoma mark the germ cell origin of seminoma that is absent in breast carcinoma. Our findings suggest that stem cell genes may either play a direct role in different types of carcinoma progression or serve as valuable markers of tumorigenesis. Cancer 2005. © 2005 American Cancer Society. [source] | ||||||||||