Publication Date:
2006-02-18
Description:
Translocation is one of the most frequently occurring human chromosomal aberrations. The constitutional t(11;22)(q23;q11), which is the only known recurrent non-Robertsonian translocation, represents a good model for studying translocations in humans. Here we demonstrate polymorphisms of the palindromic sequence at the t(11;22) breakpoint that affect the frequency of de novo translocations in sperm from normal males. A typical allele consists of a perfect palindrome, producing ~10-5 de novo t(11;22) translocations. Alleles with an asymmetric center do not form the t(11;22). Our data show the importance of genome sequence on chromosomal rearrangements, a class of human mutation that is thought to be random.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2818512/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2818512/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kato, Takema -- Inagaki, Hidehito -- Yamada, Kouji -- Kogo, Hiroshi -- Ohye, Tamae -- Kowa, Hiroe -- Nagaoka, Kayuri -- Taniguchi, Mariko -- Emanuel, Beverly S -- Kurahashi, Hiroki -- CA39926/CA/NCI NIH HHS/ -- P01 DC002027/DC/NIDCD NIH HHS/ -- P01 DC002027-070006/DC/NIDCD NIH HHS/ -- R01 CA039926/CA/NCI NIH HHS/ -- R01 CA039926-18/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 2006 Feb 17;311(5763):971.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake Aichi 470-1192, Japan [corrected]〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16484486" target="_blank"〉PubMed〈/a〉
Keywords:
AT Rich Sequence
;
Alleles
;
Gene Frequency
;
*Genetic Variation
;
Genotype
;
Heterozygote
;
Homozygote
;
Humans
;
Male
;
Repetitive Sequences, Nucleic Acid
;
Sequence Deletion
;
*Spermatozoa
;
*Translocation, Genetic
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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