Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities

1996 ◽  
Vol 97 (6) ◽  
pp. 765-769 ◽  
Author(s):  
Y. Ning ◽  
Marjorie Rosenberg ◽  
Leslie G. Biesecker ◽  
D. H. Ledbetter
Keyword(s):  
Human Chromosome ◽  
Chromosomal Abnormalities ◽  
Chromosome 22Q

Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities

1996 ◽  
Vol 97 (6) ◽  
pp. 765-769 ◽  
Author(s):  
Yi Ning ◽  
Marjorie Rosenberg ◽  
David H. Ledbetter ◽  
Leslie G. Biesecker
Keyword(s):  
Human Chromosome ◽  
Chromosomal Abnormalities ◽  
Chromosome 22Q

scholarly journals Successful transmission and transcriptional deployment of a human chromosome via mouse male meiosis

eLife ◽  
2016 ◽  
Vol 5 ◽  
Author(s):  
Christina Ernst ◽  
Jeremy Pike ◽  
Sarah J Aitken ◽  
Hannah K Long ◽  
Nils Eling ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Chromosomal Abnormalities ◽  
Chromatin Condensation ◽  
Male Meiosis ◽  
Chromosome 21 ◽  
Germline Transmission ◽  
Enhancer Activity ◽  
Exogenous Dna ◽  
Human Chromosome 21 ◽  
Male Germline

Most human aneuploidies originate maternally, due in part to the presence of highly stringent checkpoints during male meiosis. Indeed, male sterility is common among aneuploid mice used to study chromosomal abnormalities, and male germline transmission of exogenous DNA has been rarely reported. Here we show that, despite aberrant testis architecture, males of the aneuploid Tc1 mouse strain produce viable sperm and transmit human chromosome 21 to create aneuploid offspring. In these offspring, we mapped transcription, transcriptional initiation, enhancer activity, non-methylated DNA, and transcription factor binding in adult tissues. Remarkably, when compared with mice derived from female passage of human chromosome 21, the chromatin condensation during spermatogenesis and the extensive epigenetic reprogramming specific to male germline transmission resulted in almost indistinguishable patterns of transcriptional deployment. Our results reveal an unexpected tolerance of aneuploidy during mammalian spermatogenesis, and the surprisingly robust ability of mouse developmental machinery to accurately deploy an exogenous chromosome, regardless of germline transmission.

scholarly journals Reassignment of the human CSF1 gene to chromosome 1p13-p21

Blood ◽  
1991 ◽  
Vol 78 (8) ◽  
pp. 2013-2020
Author(s):  
SW Morris ◽  
MB Valentine ◽  
DN Shapiro ◽  
JE Sublett ◽  
LL Deaven ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Chromosomal Abnormalities ◽  
Single Gene ◽  
Cdna Probe ◽  
Chromosome 1 ◽  
Human Macrophage ◽  
Chromosome 5 ◽  
Metaphase Chromosomes ◽  
Genomic Probes ◽  
Human Chromosome 1

Human macrophage colony-stimulating factor (CSF-1 or M-CSF) is encoded by a single gene that was previously assigned to the long arm of chromosome 5, band q33.1, in a region adjacent to the gene encoding its receptor (Pettenati MJ, et al, Proc Natl Acad Sci USA 84:2970, 1987). Using fluorescence in situ hybridization with genomic probes to examine normal metaphase chromosomes, we reassigned the human CSF1 gene to the short arm of chromosome 1, bands p13-p21. We confirmed this result by hybridizing a CSF1 cDNA probe to filters containing flow-sorted chromosomes and by identifying CSF1 sequences in DNAs extracted from human x rodent somatic cell hybrids that contained human chromosome 1 but not human chromosome 5. Our findings are consistent with studies that have shown tight linkage between the murine CSF1 and amylase genes, as part of a conserved linkage group between mouse chromosome 3 and the short arm of human chromosome 1, which also includes the genes encoding the beta subunits of thyrotropin and nerve growth factor. Assignment of the CSF1 gene to chromosome 1 at bands p13-p21 raises the possibility that it may be altered by certain nonrandom chromosomal abnormalities arising in human hematopoietic malignancies and solid tumors.

scholarly journals Reassignment of the human CSF1 gene to chromosome 1p13-p21

Blood ◽  
1991 ◽  
Vol 78 (8) ◽  
pp. 2013-2020 ◽  
Author(s):  
SW Morris ◽  
MB Valentine ◽  
DN Shapiro ◽  
JE Sublett ◽  
LL Deaven ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Chromosomal Abnormalities ◽  
Single Gene ◽  
Cdna Probe ◽  
Chromosome 1 ◽  
Human Macrophage ◽  
Chromosome 5 ◽  
Metaphase Chromosomes ◽  
Genomic Probes ◽  
Human Chromosome 1

Abstract Human macrophage colony-stimulating factor (CSF-1 or M-CSF) is encoded by a single gene that was previously assigned to the long arm of chromosome 5, band q33.1, in a region adjacent to the gene encoding its receptor (Pettenati MJ, et al, Proc Natl Acad Sci USA 84:2970, 1987). Using fluorescence in situ hybridization with genomic probes to examine normal metaphase chromosomes, we reassigned the human CSF1 gene to the short arm of chromosome 1, bands p13-p21. We confirmed this result by hybridizing a CSF1 cDNA probe to filters containing flow-sorted chromosomes and by identifying CSF1 sequences in DNAs extracted from human x rodent somatic cell hybrids that contained human chromosome 1 but not human chromosome 5. Our findings are consistent with studies that have shown tight linkage between the murine CSF1 and amylase genes, as part of a conserved linkage group between mouse chromosome 3 and the short arm of human chromosome 1, which also includes the genes encoding the beta subunits of thyrotropin and nerve growth factor. Assignment of the CSF1 gene to chromosome 1 at bands p13-p21 raises the possibility that it may be altered by certain nonrandom chromosomal abnormalities arising in human hematopoietic malignancies and solid tumors.

scholarly journals A bacterial artificial chromosome-based framework contig map of human chromosome 22q.

1996 ◽  
Vol 93 (13) ◽  
pp. 6297-6301 ◽  
Author(s):  
U. J. Kim ◽  
H. Shizuya ◽  
H. L. Kang ◽  
S. S. Choi ◽  
C. L. Garrett ◽  
...  
Keyword(s):  
Bacterial Artificial Chromosome ◽  
Human Chromosome ◽  
Artificial Chromosome ◽  
Chromosome 22Q ◽  
Contig Map

Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse

1993 ◽  
Vol 2 (8) ◽  
pp. 1245-1252 ◽  
Author(s):  
Maja Bućan ◽  
Biljana Gatalica ◽  
Patrick Nolan ◽  
Alice Chung ◽  
Alena Leroux ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Comparative Mapping ◽  
Laboratory Mouse ◽  
Chromosome 22Q

scholarly journals A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q

2002 ◽  
Vol 71 (5) ◽  
pp. 1216-1221 ◽  
Author(s):  
Donna S. Mackay ◽  
Olivera B. Boskovska ◽  
Harry L.S. Knopf ◽  
Kirsten J. Lampi ◽  
Alan Shiels
Keyword(s):  
Human Chromosome ◽  
Nonsense Mutation ◽  
Autosomal Dominant ◽  
Chromosome 22Q

On an Application of the Metallurgical Stage to Chromosome Morphology

1967 ◽  
Vol 25 ◽  
pp. 28-29
Author(s):  
Godfrey C. Hoskins
Keyword(s):  
Human Chromosome ◽  
Electron Micrographs ◽  
Chromosome Morphology ◽  
Electron Optics ◽  
Electron Micrograph ◽  
Photographic Evidence ◽  
Sophisticated Equipment ◽  
Periodic Arrangement

The first serious electron microscooic studies of chromosomes accompanied by pictures were by I. Elvers in 1941 and 1943. His prodigious study, from the manufacture of micronets to the development of procedures for interpreting electron micrographs has gone all but unnoticed. The application of todays sophisticated equipment confirms many of the findings he gleaned from interpretation of images distorted by the electron optics of that time. In his figure 18 he notes periodic arrangement of pepsin sensitive “prickles” now called secondary fibers. In his figure 66 precise regularity of arrangement of these fibers can be seen. In his figure 22 he reproduces Siegbahn's first stereoscopic electron micrograph of chromosomes.The two stereoscopic pairs of electron micrographs of a human chromosome presented here were taken with a metallurgical stage on a Phillips EM200. These views are interpreted as providing photographic evidence that primary fibers (1°F) about 1,200Å thick are surrounded by secondary fibers (2°F) arranged in regular intervals of about 2,800Å in this metanhase human chromosome. At the telomere the primary fibers bend back on themselves and entwine through the center of each of each chromatid. The secondary fibers are seen to continue to surround primary fibers at telomeres. Thus at telomeres, secondary fibers present a surface not unlike that of the side of the chromosome, and no more susceptible to the addition of broken elements from other chromosomes.

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