Abstract
We have demonstrated that the breakpoints of the constitutional t(11;22) are located at palindromic AT-rich repeats (PATRRs) on 11q23 and 22q11. As a mechanism for this recurrent translocation, we proposed that the PATRR forms a cruciform structure that induces the genomic instability leading to the rearrangement. A patient with neurofibromatosis type 1 (NF1) had previously been found to have a constitutional t(17;22) disrupting the NF1 gene on 17q11. We have localized the breakpoint on 22q11 within the 22q11-specific low-copy repeat where the breakpoints of the constitutional t(11;22)s reside, implying a similar palindrome-mediated mechanism for generation of the t(17;22). The NF1 gene contains a 195-bp PATRR within intron 31. We have isolated the junction fragments from both the der(17) and the der(22). The breakpoint on 17q11 is close to the center of the PATRR. A published breakpoint of an additional NF1-afflicted patient with a constitutional t(17;22) is also located close to the center of the same PATRR. Our data lend additional support to the hypothesis that PATRR-mediated genomic instability can lead to a variety of translocations.
| Original language | English |
|---|---|
| Pages (from-to) | 733-738 |
| Number of pages | 6 |
| Journal | American Journal of Human Genetics |
| Volume | 72 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 01-03-2003 |
| Externally published | Yes |
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All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
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The constitutional t(17;22) : Another translocation mediated by palindromic AT-rich repeats. / Kurahashi, Hiroki; Shaikh, Tamim; Takata, Masayuki; Toda, Tatsushi; Emanuel, Beverly S.
In: American Journal of Human Genetics, Vol. 72, No. 3, 01.03.2003, p. 733-738.Research output: Contribution to journal › Article
TY - JOUR
T1 - The constitutional t(17;22)
T2 - Another translocation mediated by palindromic AT-rich repeats
AU - Kurahashi, Hiroki
AU - Shaikh, Tamim
AU - Takata, Masayuki
AU - Toda, Tatsushi
AU - Emanuel, Beverly S.
PY - 2003/3/1
Y1 - 2003/3/1
N2 - We have demonstrated that the breakpoints of the constitutional t(11;22) are located at palindromic AT-rich repeats (PATRRs) on 11q23 and 22q11. As a mechanism for this recurrent translocation, we proposed that the PATRR forms a cruciform structure that induces the genomic instability leading to the rearrangement. A patient with neurofibromatosis type 1 (NF1) had previously been found to have a constitutional t(17;22) disrupting the NF1 gene on 17q11. We have localized the breakpoint on 22q11 within the 22q11-specific low-copy repeat where the breakpoints of the constitutional t(11;22)s reside, implying a similar palindrome-mediated mechanism for generation of the t(17;22). The NF1 gene contains a 195-bp PATRR within intron 31. We have isolated the junction fragments from both the der(17) and the der(22). The breakpoint on 17q11 is close to the center of the PATRR. A published breakpoint of an additional NF1-afflicted patient with a constitutional t(17;22) is also located close to the center of the same PATRR. Our data lend additional support to the hypothesis that PATRR-mediated genomic instability can lead to a variety of translocations.
AB - We have demonstrated that the breakpoints of the constitutional t(11;22) are located at palindromic AT-rich repeats (PATRRs) on 11q23 and 22q11. As a mechanism for this recurrent translocation, we proposed that the PATRR forms a cruciform structure that induces the genomic instability leading to the rearrangement. A patient with neurofibromatosis type 1 (NF1) had previously been found to have a constitutional t(17;22) disrupting the NF1 gene on 17q11. We have localized the breakpoint on 22q11 within the 22q11-specific low-copy repeat where the breakpoints of the constitutional t(11;22)s reside, implying a similar palindrome-mediated mechanism for generation of the t(17;22). The NF1 gene contains a 195-bp PATRR within intron 31. We have isolated the junction fragments from both the der(17) and the der(22). The breakpoint on 17q11 is close to the center of the PATRR. A published breakpoint of an additional NF1-afflicted patient with a constitutional t(17;22) is also located close to the center of the same PATRR. Our data lend additional support to the hypothesis that PATRR-mediated genomic instability can lead to a variety of translocations.
UR - http://www.scopus.com/inward/record.url?scp=0037371163&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0037371163&partnerID=8YFLogxK
U2 - 10.1086/368062
DO - 10.1086/368062
M3 - Article
C2 - 12557125
AN - SCOPUS:0037371163
VL - 72
SP - 733
EP - 738
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 3
ER -