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301 350 Schizo-cDNA ---------- --------t- ----gg--t- ---------a --a------- HS307 ----t----- ---------- ---------- ---------- ---------- HS408 ---------- ---------- --------c- -----t---- ---------- - PowerPoint PPT Presentation
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MPL MPL
HS307HS307
HS408HS408
XY7-sY26 sY34A-XY4
Table 1. Percentage similarity of SINE-R elements
Fig. 7. Phylogenetic tree of the SINE-R retroposon family and HERV-K family by neighbour-joining method
948
635
779
217
439
992
456
1000
HERV-K10
HERV-K18
IDDMK1,2-22
SINE-R14
HS408
HS307HS307SINE-R.C2
SINE-R11
FMR-1
SINE-R19
Schizo cDNA
Fig. 6. Sequence alignments of the SINE-R retroposon family with HS307, HS408, and schizophrenic brain cDNA
1. Crow TJ. 1984. A re-evaluation of the viral hypothesis: is psychosis the res
ult of retroviral integration at a site close to the cerebral dominance gene.
Br J Psychiatry 145:243-253
2. Laval SH, Dann J, Burtler RJ, Loftus J, Rue J, Leask SJ, Bass N, Comazzi
M, Vita A, Nanko S, Shaw S, Peterson P, Shields G, Smith AB, Stewart J,
DeLisi LE, Crow TJ. 1998. Evidence for linkage to psychosis and cerebral
asymmetry (relative hand skill) on the X chromosome. Am J Med Genet (N
europsychiatr Genet) 81:420-427
3. Kobayashi K, Nakahori Y, Miyaki M, et al. 1998. An ancient retrotranspos
al insertion causes Fukuyama-type congenital muscular dystrophy. Nature
394:388-392
Fig. 5. PCR analysis of YAC clones in human Xq21.3 region
1. Within the Xq21.3 region, we found two retroposons, HS307 and HS408, with a high degree of sequence homology to but not identity with the schizophrenic brain cDNA.
2. The phylogeny suggests that the HS307 sequence could be very closely related to SINE-R.C2 that is human specific retroposon in human genome.
3. The HS307 and SINE-R.C2 showed similar sequences that caused Fukuyama-type muscular dystrophy.
4. Therefore, this class of retroposons, as agents of change in the human genome, has potential relevance to pathology.
1 50
Schizo-cDNA ---------- ---c---a-- ---a------ --t------- -----aa---
HS307 ------t--- ---g----g- ---------- --g------- ----------
HS408 -----a---- ---c--g--- -g-------- --t------- ggg---g---
SINE-RC2 ---------- ---g------ ---------- --g------- ----------
SINE-R11 ---------- ---g------ ---a------ --g------- ----------
SINE-R14 ---------- ---c------ ---------- --t------- g----gg---
SINE-R19 ---------- ---c------ ---a--t--- --t------- ------ac--
FMR-1 -----a-c-- ---g--g--- -----c---- --g------- -gg-------
Consensus ATGGCGGTTT TGT-GAATAG AAAGGGGGGA AA-GTGGGGA AAAGATTGAG
51 100
Schizo-cDNA -g---a---t ---a---c-- ---------- ---------- --a------.
HS307 ---a-g---g -----c---- ---------- ---------- -------t--
HS408 -gg--a---t ---------- ---------g g--------- --a---t--.
SINE-RC2 -----g---g -----c---- ---------- ---g------ c---------
SINE-R11 -----g---g ---------- ---------- ---------- ----------
SINE-R14 -g---g-t-t ---a------ ------g--- g--g------ --ta-----.
SINE-R19 -----a---a ---------- ---------- ---------- --a--g--t.
FMR-1 --g--a---a -----c---- ------g--- g--------- ----------
Consensus AAATC-GAT- GTTGCTGTGT CTGTGTAGAA AGAAGTAGAC ATGGGAGACT
101 150
Schizo-cDNA .-c------- ---------- ---------- ---------- ----g-----
HS307 --t------- ---------- ---------- -------g-- ----c----g
HS408 .-c------- ---------- ---------- ---------- ----g-----
SINE-RC2 --t------- ---------- ---------- ---------- ----c-----
SINE-R11 --t------- ---------- ---------- ----t----- ----c-----
SINE-R14 .-c------- ---------- g--------- ---------- ----g-----
SINE-R19 .-c------- ---------- ---------- ---------- ----g-----
FMR-1 --t------- -----c---g g--g------ c--------- ----c-----
Consensus TT-CATTTTG TTCTGTACTA AGAAAAATTC TTCTGCCTTG GGAT-CTGTT
151 200
Schizo-cDNA a------a-- ---------- ----cc---- ---------- ----------
HS307 -----g---- ---------- ---------- ---------- ----------
HS408 a------a-- ---------- ---------- ---------- a---------
SINE-RC2 ----gg---- ---------- ---------- ---------- --------a-
SINE-R11 ---------- ---------- ---------- ---------- ----------
SINE-R14 a------a-- ---------- ----c----- ---------- ----------
SINE-R19 ---------- ---------- ----g----- g--------- ----------
FMR-1 -----g---- ---g------ ---------- ---------- ----------
Consensus GATCTATGAC CTTACCCCCA ACCCTGTGCT CTCTGAAACA TGTGCTGTGT
201 250
Schizo-cDNA -a-------- ---------- ---------- ---------- ----------
HS307 ---------- ---------- ---------- ---------- ----------
HS408 ---------- ---------- ---------- ---------- ----------
SINE-RC2 ---------- --g------- ----a----- ---------- ----------
SINE-R11 ---------- ---------- ---------- ---------- ----------
SINE-R14 ---------- -----at--- ---------- ---------- ----------
SINE-R19 ---------- ---------- ---------- ---------- ----------
FMR-1 ---------- ---------- ---------- ---------- ----------
Consensus CCACTCAGGG TTAAATGGAT TAAGGGCGGT GCAAGATGTG CTTTGTTAAA
251 300
Schizo-cDNA ---------- ---a------ ----c----- ---------- ----------
HS307 ---------- ---------- ----c----- ---------- ----------
HS408 ---------- ---------- ----a----- ---------- ----------
SINE-RC2 ---------- ---------- ----c----- ---------- ----------
SINE-R11 ---------- ---------- ----g----- ---------- ----------
SINE-R14 ---------- ---------- ----g----- ---------- ----------
SINE-R19 ---------- ---------- --a-t----- ----c----- ----------
FMR-1 ---------- ---------- ----g----- ---------- -a--------
Consensus CAGATGCTTG AAGGCAGCAT GCTC-TTAAG AGTCATCACC ACTCCCTAAT
301 350
Schizo-cDNA ---------- --------t- ----gg--t- ---------a --a-------
HS307 ----t----- ---------- ---------- ---------- ----------
HS408 ---------- ---------- --------c- -----t---- ----------
SINE-RC2 ---------- ---------- ---------- ---------- ----------
SINE-R11 ---------- ---------- ---------- ---------- ----------
SINE-R14 -----a---- ---------- -------t-- ---------- ----------
SINE-R19 ---------- ---------- ---------- --------c- ----------
FMR-1 --------at ---------- --------t- ---------- ----------
Consensus CTCAAGTACC CAGGGACACA AACACTGCGG AAGGCCGCAG GGTCCTCTGC
351 400
Schizo-cDNA ---------- ---------- ------tg-- ---------- ------tt--
HS307 ---------- ------t--- ---------- ---------- ----c-----
HS408 ---------- ---------- ---------- ---------- --t-------
SINE-RC2 ---------- ---------- ---------- ---------- ----------
SINE-R11 ---------- ---------- ---------- ---------- ----------
SINE-R14 ---------- ---------- -------a-- ---------- ----------
SINE-R19 ---------- ---------g ---------- ---------- ---t------
FMR-1 ---------- ---------- ---------- ---------- ----------
Consensus CTAGGAAAAC CAGAGACCTT TGTTCACTTG TTTATCTGCT GACCTTCCCT
401 439
Schizo-cDNA --------a- ---------- -----c---- ------cc-
HS307 ---t------ ---------- ---------- -------c-
HS408 ---------- ---------- ---------- -------c-
SINE-RC2 ---------- ---g------ ---------- -------t-
SINE-R11 ---------- ---------- ---------- -------t-
SINE-R14 ---------- ---------- ---------- ------ct-
SINE-R19 ----g----- --------a- -a-------- -------c-
FMR-1 ---------- --c------- ---------- -------t-
Consensus CCACTATTGT CCTATGACCC TGCCAAATCC CCCTCTG-G
CONCLUSIONCONCLUSION REFERENCESREFERENCES
1 2 3 4 5 6 7 8
1. Schizo-cDNA - 2. HS307 89.7 - 3. HS408 91.5 91.3 - 4. SINE-R.C2 90.2 95.9 91.8 - 5. SINE-R11 92.0 96.4 93.4 97.3 - 6. SINE-R14 92.0 90.8 93.1 92.2 93.6 - 7. SINE-R19 91.1 92.0 92.0 92.4 94.5 91.1 - 8. FMR-1 87.6 92.3 92.0 93.2 94.1 90.2 89.9 -