Human chromosome 16 features one of the highest levels of segmentally duplicated sequence among the human autosomes. We report here the 78,884,754 base pairs of finished chromosome 16 sequence, ...representing over 99.9% of its euchromatin. Manual annotation revealed 880 protein-coding genes confirmed by 1,670 aligned transcripts, 19 transfer RNA genes, 341 pseudogenes and three RNA pseudogenes. These genes include metallothionein, cadherin and iroquois gene families, as well as the disease genes for polycystic kidney disease and acute myelomonocytic leukaemia. Several large-scale structural polymorphisms spanning hundreds of kilobase pairs were identified and result in gene content differences among humans. Whereas the segmental duplications of chromosome 16 are enriched in the relatively gene-poor pericentromere of the p arm, some are involved in recent gene duplication and conversion events that are likely to have had an impact on the evolution of primates and human disease susceptibility.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The proportionality between differential cross sections at vanishing linear momentum transfer and Gamow-Teller transition strength, expressed in terms of the unit cross section ({sigma}{sub GT}), was ...studied as a function of target mass number for (t,{sup 3}He) and ({sup 3}He,t) reactions at 115A MeV and 140A MeV, respectively. Existing ({sup 3}He,t) and (t,{sup 3}He) data on targets with mass number 12{<=}A{<=}120 were complemented with new and reevaluated (t,{sup 3}He) data on proton, deuteron, {sup 6}Li, and {sup 12}C targets. It was found that in spite of the small difference in beam energies between the two probes, the unit cross sections have a nearly identical and simple dependence on target mass number A, for A{>=}12: {sigma}{sub GT}=109/A{sup 0.65}. The factorization of the unit cross sections in terms of a kinematical factor, a distortion factor, and the strength of the effective spin-isospin transfer nucleus-nucleus interaction was investigated. Simple phenomenological functions depending on mass number A were extracted for the latter two. By comparison with plane and distorted-wave Born approximation calculations, it was found that the use of a short-range approximation for knock-on exchange contributions to the transition amplitude results in overestimated cross sections for reactions involving the composite ({sup 3}He,t) and (t,{sup 3}He) probes.
In the interest of cloning and analyzing the genes responsible for two very different diseases, the Rubinstein–Taybi syndrome (RTS) and acute myeloid leukemia (AML) associated with the somatic ...translocation t(8;16)(p11;p13.3), we constructed a high-resolution restriction map of contiguous cosmids (contig) covering 1.2 Mb of chromosome 16p13.3. By fluorescencein situhybridization and Southern blot analysis, we assigned all tested RTS and t(8;16) translocation breakpoints to a 100-kb region. We have previously reported exact physical locations of these 16p breakpoints, which all disrupt one gene we mapped to this interval: the CREB-binding protein (CBP or CREBBP) gene. Intriguingly, mutations in the CBP gene are responsible for RTS as well as the t(8;16)-associated AML. CBP functions as an integrator in the assembly of various multiprotein regulatory complexes and is thus necessary for transcription in a broad range of transduction pathways. We report here the cloning, physical mapping, characterization, and full cDNA nucleotide sequence of the human CBP gene.
The purpose of this pilot study was to determine if a cancer research study website increased comprehension among patients and caregivers and if website evaluations differed across patient and ...caregiver groups. Participants (
N
= 200) were cancer patients and caregivers living in the USA. Comprehension was determined by the number of correct responses to a series of questions about key characteristics of cancer research studies that are frequently unknown or misinterpreted by patients and/or caregivers. Quantitative and qualitative analyses were conducted to determine participant evaluations across four domains: perceived website credibility, perceived website attractiveness, perceived information effectiveness, and perceived information clarity. Patients and caregivers perceived the website as highly credible and attractive and the information as both easy to understand and moderately effective in helping them make decisions about CCTs. Qualitative feedback underscores the importance of testimonials to website credibility. However, the range in the number of correct responses of certain items across participants coupled with discrepancies in comprehension between patients and caregivers suggests the need for stronger mechanisms evaluating knowledge outcomes.
Basic to the development of long-range physical maps of DNA are the detection and localization of landmarks within recombinant clones. Sequence-tagged sites (STSs), which are short stretches of DNA ...that can be specifically detected by the polymerase chain reaction (PCR), can be used as such landmarks. Our interest is to construct physical maps of whole human chromosomes by localizing STSs within yeast artificial chromosome (YAC) clones. Here we describe a generalized strategy for the systematic generation of large numbers of STSs specific for human chromosome 7. These STSs can be detected by PCR assays developed following the sequencing of anonymous pieces of chromosome 7 DNA, which was derived from flow-sorted chromosomes or from lambda clones made from DNA of a human-hamster hybrid cell line. Our approach for STS generation is tailored for the development of PCR assays capable of screening a large YAC library. In this study, we report the generation of 100 new STSs specific to human chromosome 7.
We present that the normalized 238U(n,f)/235U(n,f) cross section ratio has been measured using the NIFFTE fission Time Projection Chamber (fissionTPC) from the reaction threshold to 30 MeV . The ...fissionTPC is a two-volume MICROMEGAS time projection chamber that allows for full three-dimensional reconstruction of fission-fragment ionization profiles from neutron-induced fission. The measurement was performed at the Los Alamos Neutron Science Center, where the neutron energy is determined from neutron time of-flight. The 238U(n,f)/235U(n,f) ratio reported here is the first cross section measurement made with the fissionTPC, and will provide new experimental data for evaluation of the 238U(n,f) cross section, an important standard used in neutron-flux measurements. Use of a development target in this work prevented the determination of an absolute normalization, to be addressed in future measurements. Instead, the measured cross section ratio has been normalized to ENDF/B-VIII.β5 at 14.5 MeV.
A cDNA encoding human glutamine phosphoribosylpyrophosphate amidotransferase for step one in de novo purine nucleotide synthesis
was cloned, sequenced, and expressed in Chinese hamster ovary cells to ...yield functional enzyme. Enzyme function was dependent
upon removal of an 11-amino-acid propeptide. A mutant enzyme having three propeptide amino acid replacements was not processed
and was not active. The human genes GPAT, encoding the amidotransferase, and AIRC, encoding a bifunctional enzyme for steps
six and seven in the pathway, were cloned and characterized. GPAT and AIRC are closely linked and divergently transcribed
from an intergenic region of approximately 625 base pairs. Expression of a luciferase reporter from the GPAT promoter was
approximately 3-4-fold higher than from the AIRC promoter. The GPAT gene was mapped to the q12 region of chromosome 4.
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