Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2→q24.3)] inherited from a mother mosaic for the abnormality

1996 ◽  
Vol 61 (1) ◽  
pp. 16-20 ◽  
Author(s):  
Vijay Tonk ◽  
Nancy R. Schneider ◽  
Mauricio R. Delgado ◽  
Jen-i Mao ◽  
Roger A. Schultz
Keyword(s):  
Small Chromosome ◽  
Chromosome 10Q

scholarly journals Cholesterol 25-Hydroxylase on Chromosome 10q Is a Susceptibility Gene for Sporadic Alzheimer’s Disease

2005 ◽  
Vol 2 (5) ◽  
pp. 233-241 ◽  
Author(s):  
Andreas Papassotiropoulos ◽  
Jean-Charles Lambert ◽  
Fabienne Wavrant-De Vrièze ◽  
M. Axel Wollmer ◽  
Heinz von der Kammer ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Susceptibility Gene ◽  
Sporadic Alzheimer’S Disease ◽  
Chromosome 10Q

scholarly journals Saturation Mapping of a Gene-Rich Recombination Hot Spot Region in Wheat

Genetics ◽  
2000 ◽  
Vol 154 (2) ◽  
pp. 823-835 ◽  
Author(s):  
Justin D Faris ◽  
Karri M Haen ◽  
Bikram S Gill
Keyword(s):  
Positional Cloning ◽  
Physical Map ◽  
Hot Spot ◽  
Chromosome Breakage ◽  
Small Chromosome ◽  
Gene Density ◽  
Chromosome 5B ◽  
High Gene ◽  
The Many ◽  
Recombination Hot Spots

AbstractPhysical mapping of wheat chromosomes has revealed small chromosome segments of high gene density and frequent recombination interspersed with relatively large regions of low gene density and infrequent recombination. We constructed a detailed genetic and physical map of one highly recombinant region on the long arm of chromosome 5B. This distally located region accounts for 4% of the physical size of the long arm and at least 30% of the recombination along the entire chromosome. Multiple crossovers occurred within this region, and the degree of recombination is at least 11-fold greater than the genomic average. Characteristics of the region such as gene order and frequency of recombination appear to be conserved throughout the evolution of the Triticeae. The region is more prone to chromosome breakage by gametocidal gene action than gene-poor regions, and evidence for genomic instability was implied by loss of gene collinearity for six loci among the homeologous regions. These data suggest that a unique level of chromatin organization exists within gene-rich recombination hot spots. The many agronomically important genes in this region should be accessible by positional cloning.

Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q

2003 ◽  
Vol 123A (2) ◽  
pp. 164-168 ◽  
Author(s):  
Nata?a Mar?un Varda ◽  
N. Kokalj Voka? ◽  
Z. Kani? ◽  
K. Bra?i? ◽  
A. Erjavec ◽  
...  
Keyword(s):  
Renal Insufficiency ◽  
De Novo ◽  
Partial Trisomy ◽  
Chromosome 10Q

scholarly journals Linkage of Type 2 Diabetes Mellitus and of Age at Onset to a Genetic Location on Chromosome 10q in Mexican Americans

1999 ◽  
Vol 64 (4) ◽  
pp. 1127-1140 ◽  
Author(s):  
Ravindranath Duggirala ◽  
John Blangero ◽  
Laura Almasy ◽  
Thomas D. Dyer ◽  
Kenneth L. Williams ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Mexican Americans ◽  
Age At Onset ◽  
Chromosome 10Q ◽  
Genetic Location

scholarly journals Periodic variation of mutation rates in bacterial genomes associated with replication timing

2017 ◽  
Author(s):  
Marcus M. Dillon ◽  
Way Sung ◽  
Michael Lynch ◽  
Vaughn S. Cooper
Keyword(s):  
Vibrio Fischeri ◽  
Bacterial Species ◽  
Replication Timing ◽  
Small Chromosome ◽  
Burkholderia Cenocepacia ◽  
Mutation Rates ◽  
Base Substitution ◽  
Large Chromosome ◽  
Bacterial Genomes ◽  
Substitution Mutation

ABSTRACTThe causes and consequences of spatiotemporal variation in mutation rates remains to be explored in nearly all organisms. Here we examine relationships between local mutation rates and replication timing in three bacterial species whose genomes have multiple chromosomes:Vibrio fischeri, Vibrio cholerae, andBurkholderia cenocepacia. Following five evolution experiments with these bacteria conducted in the near-absence of natural selection, the genomes of clones from each lineage were sequenced and analyzed to identify variation in mutation rates and spectra. In lineages lacking mismatch repair, base-substitution mutation rates vary in a mirrored wave-like pattern on opposing replichores of the large chromosome ofV. fischeriandV. cholerae, where concurrently replicated regions experience similar base-substitution mutation rates. The base-substitution mutation rates on the small chromosome are less variable in both species but occur at similar rates as the concurrently replicated regions of the large chromosome. Neither nucleotide composition nor frequency of nucleotide motifs differed among regions experiencing high and low base-substitution rates, which along with the inferred ~800 Kb wave period suggests that the source of the periodicity is not sequence-specific but rather a systematic process related to the cell cycle. These results support the notion that base-substitution mutation rates are likely to vary systematically across many bacterial genomes, which exposes certain genes to elevated deleterious mutational load.

scholarly journals Precision phenotyping reveals novel loci for quantitative resistance to septoria tritici blotch in European winter wheat

2018 ◽  
Author(s):  
Steven Yates ◽  
Alexey Mikaberidze ◽  
Simon Krattinger ◽  
Michael Abrouk ◽  
Andreas Hund ◽  
...  
Keyword(s):  
Disease Resistance ◽  
Winter Wheat ◽  
High Throughput ◽  
Quantitative Resistance ◽  
Small Chromosome ◽  
Snp Markers ◽  
Automated Image Analysis ◽  
Septoria Tritici Blotch ◽  
Septoria Tritici ◽  
Limiting Factor

Accurate, high-throughput phenotyping for quantitative traits is the limiting factor for progress in plant breeding. We developed automated image analysis to measure quantitative resistance to septoria tritici blotch (STB), a globally important wheat disease, enabling identification of small chromosome intervals containing plausible candidate genes for STB resistance. 335 winter wheat cultivars were included in a replicated field experiment that experienced natural epidemic development by a highly diverse but fungicide-resistant pathogen population. More than 5.4 million automatically generated phenotypes were associated with 13,648 SNP markers to perform a GWAS. We identified 26 chromosome intervals explaining 1.9-10.6% of the variance associated with four resistance traits. Seventeen of the intervals were less than 5 Mbp in size and encoded only 173 genes, including many genes associated with disease resistance. Five intervals contained four or fewer genes, providing high priority targets for functional validation. Ten chromosome intervals were not previously associated with STB resistance. Our experiment illustrates how high-throughput automated phenotyping can accelerate breeding for quantitative disease resistance. The SNP markers associated with these chromosome intervals can be used to recombine different forms of quantitative STB resistance that are likely to be more durable than pyramids of major resistance genes.

scholarly journals Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A

2017 ◽  
Vol 176 (5) ◽  
pp. 515-519 ◽  
Author(s):  
Lucas L Cunha ◽  
Susan C Lindsey ◽  
Maria Inez C França ◽  
Leda Sarika ◽  
Alexandra Papathoma ◽  
...  
Keyword(s):  
Medullary Thyroid Cancer ◽  
Dna Analysis ◽  
Common Ancestor ◽  
Inherited Disease ◽  
Rare Mutation ◽  
Chromosome 10Q ◽  
Ancestral Origin ◽  
Multiple Endocrine Neoplasia 2A ◽  
The Common ◽  
Brazilian Cohort

Objectives About one-quarter of patients with medullary thyroid cancer (MTC) have inherited disease due to mutations in the RET gene. A rare mutation in exon 8 (G533C) of RET, previously described in a large Brazilian family with MEN2A, also appeared to be clustering in Greece, whereas it was rarely reported in other ethnic groups. The aim of this study was to identify a possible common ancestry between these carriers. Patients and methods Twelve RET G533C mutation carriers, four randomly selected from the Brazilian cohort and eight from apparently unrelated Greek families, were studied for a possible common ancestral origin. RET flanking microsatellite markers at chromosome 10q (D10S197, D10S196, D10S1652 and D10S537) were used. Results Genomic DNA analysis using these markers showed that many of these apparently unrelated individuals shared a common haplotype indicating a common ancestral origin. Conclusion Our data suggest that Brazilian and Greek patients with MTC carrying the G533C mutation in exon 8 of RET gene originate from a common ancestor. Due to historical reasons, we speculate that the more plausible explanation for the origin of this mutation is in Greece.

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