Search results for "Chromosome 16"
showing 10 items of 11 documents
Variant Three-Way Translocation of Inversion 16 in AML-M4Eo Confirmed by Fluorescence In Situ Hybridization Analysis
1999
The inv(16) and t(16;16) characterize a subgroup of acute myelomonocytic leukemia (AML) with distinct morphological features and a favorable prognosis. Both cytogenetic abnormalities result in a fusion of CBF beta at 16q22 and MYH11 gene at 16p13, whose detection by PCR and fluorescence in situ hybridization (FISH) is useful for diagnosis and monitoring of the disease. Variant translocations of inv(16)/t(16;16) are very rare and whether they are also associated with a favorable prognosis is unknown. We report a patient presenting with typical AML-M4Eo and a three-way translocation of inv(16) involving 16p13, 16q22, and 3q22. FISH studies on bone marrow (BM) chromosomes using CBFB and MYH11 …
The chromosomes of 16 molluscan species
1982
Abstract Chromosome numbers were determined for two species of Placophora, eleven species of Gastropoda, one species of Pelecypoda and two species of Cephalopoda. No heterotypic or supernumerary chromosome resulted from the analysis of meiotic and, when possible, of mitotic chromosomes. For this reason no positive evidence emerges for the presence of differentiated sex chromosome pairs. Data available seem to indicate that evolution within the Mollusca phylum has been accompanied by a decrease in both chromosome number and DNA content (according to Hinegardner, 1974), if we consider subclasses, orders and families (apart from the subclass Prosobranchia). On the contrary the primitive class …
The gene encoding the transcriptional repressor BERF-1 maps to a region of conserved synteny on mouse chromosome 16 and human chromosome 3 and a rela…
1999
We have recently identified and characterized a Kruppel-like zinc finger protein (BERF-1), that functions as a repressor of β enolase gene transcription. By interspecific backcross analysis the gene encoding BERF-1 was localized 4.7 cM proximal to the <i>Mtv6</i> locus on mouse chromosome 16, and an isolated pseudogene was localized to mouse chromosome 8, about 5.3 cM distal to the D8Mit4 marker. Nucleotide sequence identity and chomosome location indicate that the gene encoding BERF-1 is the mouse homologue (<i>Zfp148</i>) of ZNF148 localized to human chromosome 3q21, a common translocation site in acute myeloid leukemia patients.
Genetics of Polyglandular Failure
2016
The rare autoimmune polyglandular failure syndromes (APS) comprise a juvenile (APS1) and an adult type (APS2 and 3). APS1 is caused by mutations in the autoimmune regulatory (AIRE) gene on chromosome 21 and is inherited in an autosomal recessive manner. Mutations in the AIRE gene impair self-tolerance and result in defect proteins causing autoimmune destruction of target organs. Genetic testing identifies patients with APS1. For APS2/3 disease susceptibility genes are the human leucocyte antigen on chromosome 6, the cytotoxic T lymphocyte antigen (chromosome 2), the protein tyrosine phosphatase nonreceptor type 22 (chromosome 1), the forkhead box P3 (X chromosome), and the interleukin-2 rec…
Pseudo-exclusion from paternity due to maternal uniparental disomy 16.
1998
The investigation of a case of disputed paternity revealed indirect exclusion of the alleged father in the haptoglobin system and in the DNA single-locus system D16S309/Hinf I (MS205). The paternity index for the non-exclusion systems was > 10(6). Since both exclusion systems (HP and MS205) are located on chromosome 16, we investigated 10 microsatellite loci covering this chromosome with 10-20 cM resolution. Analysis of the child's chromosome showed only alleles of maternal origin and lack of inheritance of paternal alleles for five informative loci. The markers close to the centromere of chromosome 16 were heterozygous, whereas distal loci were either heterozygous or homozygous for materna…
WWOX, a Chromosomal Fragile Site Gene and its Role in Cancer
2006
Allelic imbalances affecting the long arm of chromosome 16 have been extensively reported in the literature as common abnormalities observed in various carcinoma types, As a result of loss of heterozygosity (LOH) studies in breast cancer, we delimited a genomic area within chromosome 16 that demonstrated the highest frequency of abnormalities. This led us to the identification and cloning of WWOX, a candidate tumor suppressor gene (TSG) that spans a fragile region of DNA located at 16q23.3-24.1 (FRA16D: the second most active common chromosomal fragile site in the human genome). This gene encodes a protein that contains two WW domains responsible of protein-protein interactions and a short-…
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity
2013
The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and adverse cardiometabolic health. The only gene so far associated with pubertal height growth, LIN28B, pleiotropically influences childhood growth, puberty and cancer progression, pointing to shared underlying mechanisms. To discover genetic loci influencing pubertal height and growth and to place them in context of overall growth and maturation, we performed genome-wide association meta-analyses i…
Localization of the giant axonal neuropathy gene to chromosome 16q24
1998
Giant axonal neuropathy (GAN) is a degenerative disorder of the peripheral nerves that is inherited as an autosomal recessive trait, presenting in early childhood and progressing to death, usually by late adolescence. Diagnosis is made by peripheral nerve biopsy, in which a striking pathological finding is seen--fibers distorted by giant axonal swellings filled with densely packed bundles of neurofilaments (the primary intermediate filament in neurons), with segregation of other axoplasmic organelles. In addition to disorganized neurofilaments in nerve, disorganization of other members of the intermediate filament family of proteins is seen in other tissues; this implies that the underlying…
Genome-wide association studies identify four ER negative-specific breast cancer risk loci
2013
Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environm…
Spanish human proteome project: Dissection of chromosome 16
2013
11 páginas, 6 figuras.-- et al.