Ultraconserved Elements in the Human Genome
نویسندگان
چکیده
منابع مشابه
Ultraconserved elements in the human genome.
There are 481 segments longer than 200 base pairs (bp) that are absolutely conserved (100% identity with no insertions or deletions) between orthologous regions of the human, rat, and mouse genomes. Nearly all of these segments are also conserved in the chicken and dog genomes, with an average of 95 and 99% identity, respectively. Many are also significantly conserved in fish. These ultraconser...
متن کاملHuman genome ultraconserved elements are ultraselected.
Ultraconserved elements in the human genome are defined as stretches of at least 200 base pairs of DNA that match identically with corresponding regions in the mouse and rat genomes. Most ultraconserved elements are noncoding and have been evolutionarily conserved since mammal and bird ancestors diverged over 300 million years ago. The reason for this extreme conservation remains a mystery. It ...
متن کاملThe strength of selection on ultraconserved elements in the human genome.
Ultraconserved elements are stretches of consecutive nucleotides that are perfectly conserved in multiple mammalian genomes. Although these sequences are identical in the reference human, mouse, and rat genomes, we identified numerous polymorphisms within these regions in the human population. To determine whether polymorphisms in ultraconserved elements affect fitness, we genotyped unrelated h...
متن کاملUltraconserved elements in the human genome: Association and transmission analyses of highly constrained SNPs
Ultraconserved elements in the human genome: Association and transmission analyses of highly constrained SNPs Charleston W. K. Chiang, Ching-Ti Liu, Guillaume Lettre, Leslie A. Lange, Neal W. Jorgensen, Brendan J. Keating, Sailaja Vedantam, Nora L. Nock, Nora Franceschini, Alex P. Reiner, Ellen W. Demerath, Eric Boerwinkle, Jerome I. Rotter, James G. Wilson, Kari E. North, George J. Papanicolao...
متن کاملUltraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms.
Ultraconserved elements in the human genome likely harbor important biological functions as they are dosage sensitive and are able to direct tissue-specific expression. Because they are under purifying selection, variants in these elements may have a lower frequency in the population but a higher likelihood of association with complex traits. We tested a set of highly constrained SNPs (hcSNPs) ...
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ژورنال
عنوان ژورنال: Science
سال: 2004
ISSN: 0036-8075,1095-9203
DOI: 10.1126/science.1098119