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 -