There is a newer version of the record available.

Published May 3, 2023 | Version v1
Dataset Open

A transposase-derived gene responsible for human brain development

  • 1. Memorial sloan kettering cancer center

Description

DNA transposable elements and transposase-derived genes are present in most living organisms, including vertebrates, but their function is largely unknown. PiggyBac Transposable Element Derived 5 (PGBD5) is the oldest evolutionarily conserved DNA transposase-derived gene with retained nuclease activity in vertebrates. Vertebrate brain development is known to be associated with prominent neuronal cell death and DNA breaks, but their causes and functions are not well understood. Here, we show that PGBD5 contributes to normal brain development in mice and humans, where its deficiency causes disorder of intellectual disability, movement and seizures. In mice, Pgbd5 is required for the developmental induction of post-mitotic DNA breaks and recurrent somatic genome rearrangements in neurons. Together, these studies nominate PGBD5 as the long-hypothesized neuronal DNA nuclease required for brain function in mammals.

Files

DEL_DUP_INS_INV_3176_Hippocampus.pre.txt

Files (2.2 GB)

Name Size Download all
md5:ca3881d8042ad3009b9746378d3ad5d6
8.5 MB Download
md5:6046548c4eae3ae09851fdf44b44a5c6
552.0 kB Download
md5:c3c6d2d69c37898e0352b8ed7c64ae60
8.9 MB Download
md5:f48cbe16a6710d80d222588569a8119a
565.2 kB Download
md5:618d595484029e6c8af34e6e68c15e8e
8.8 MB Download
md5:547d74ebbdea73e814503f8ed8f84bff
564.6 kB Download
md5:13b56891fb3899653b796c1e73c27620
7.8 MB Download
md5:14254d7a8499a9c6d490d0f91107f530
495.8 kB Download
md5:1ed988665b9c0e239184a5cb176f2bbb
8.1 MB Download
md5:46485a9b9f1b6ac1b54ecb5a2bc9a0d4
512.3 kB Download
md5:2f6b1fb1aebefb6e96432104202aa6fb
8.5 MB Download
md5:c95f0c56d03599f00cf6fb9bf1335b21
540.2 kB Download
md5:02e18028ada0c8168fc4dc92cc2af974
6.5 MB Download
md5:6a873e35925434e29a145fef38b75a2a
372.7 kB Download
md5:a27445af3b43ed58d04c3c55f560b7b5
6.4 MB Download
md5:2c14f4badc62a6df6c6e6b74689b9de9
370.6 kB Download
md5:a83b9988d55306678fd467855cef588f
6.5 MB Download
md5:b2ac776ba85d93e991b8d516983b9d4f
374.1 kB Download
md5:9ac89d5be6d48f4c92250f11eb1fd2a8
6.9 MB Download
md5:4cb4f570e20bd793d4b0ac453f01a576
400.2 kB Download
md5:c6bf19ecee71faf07e9e28e7e4990088
6.7 MB Download
md5:a65b45fdac0efd9e7cdccd1d098ae304
390.0 kB Download
md5:950e9803c5662bf69e4feed2dc3fc273
6.7 MB Download
md5:af273935f2874b2e0e167bd8bf972094
388.1 kB Download
md5:1b5b57f9995c919d0277e93e10d80273
5.0 MB Download
md5:a9f8f89e01c9b5496c49c1433457ecb8
331.3 kB Download
md5:6adec314fc226d2c234e3aeceb1b748d
5.9 MB Download
md5:d44bba813021d642c04e7e6b55ceb3ed
362.4 kB Download
md5:9d0709ae4acde304ef138358c03d5dba
7.0 MB Download
md5:693708326efd518338d2d579850d6ecf
407.2 kB Download
md5:2675610abd20bf7e06f6e79d4d6aef2d
8.4 MB Download
md5:b4595b6b6d2d1cd26e31931392db321b
530.9 kB Download
md5:67ef79366e74a5bf987e6f5ebd10820a
8.8 MB Download
md5:5ef4c017117589f78826a96415f80cb0
556.8 kB Download
md5:cb89e630fbeece92426062906d2b649c
8.3 MB Download
md5:4758399c88ff024aa2d2a786f8169ed7
534.6 kB Download
md5:e1a098d4062111cb0674806e6d7cb998
7.6 MB Download
md5:0c6fc436df350f56ce3076163e770318
414.7 kB Download
md5:4c93f1b972edfa4d0c28369a2fd041ba
7.7 MB Download
md5:2a7719bc9c283203730b7dc18ad1083a
412.3 kB Download
md5:7fc96814d245ef49c25baa7051913faa
7.8 MB Download
md5:617c32a858417ed8efd754fe2ed3a655
408.3 kB Download
md5:03adad8ef3abbfcf42abde357f4e4b86
17.4 MB Download
md5:5c3efbe078a44810b3650999fd430863
507.2 kB Download
md5:817a6aa9a915dff3b92592474fed2566
17.2 MB Download
md5:d3102961cdc6d955f1b46df8326580ec
503.9 kB Download
md5:e674ecd22e16006f99f4bfef9abe409d
13.5 MB Download
md5:f085349fa119367625d5e4c7352ce405
429.3 kB Download
md5:521eefe6a8c03e1c8a3d54a0b049c050
20.0 MB Download
md5:fab15318450da2dab54cb0ca9c45567b
526.3 kB Download
md5:4071ec0f2030392bd25ac13c83fa3202
20.0 MB Download
md5:97e56952d02aaa479ba1630b4bc86e10
526.5 kB Download
md5:72f6d82ce127449f1a41d6a6e28a818e
21.7 MB Download
md5:b5c8c6a10f78a65971c85a7a0e4cbef4
561.8 kB Download
md5:864397f827af4c82daaa8888712dbe06
17.8 MB Download
md5:a18a3e2eadba2ff1e2cea88be3e52119
505.5 kB Download
md5:77c5af801e98fedf813a924514047cd3
17.6 MB Download
md5:f3b2719e9eb79cb64fee080bc9f19dca
505.0 kB Download
md5:2cd92706cbd240a509626b3abdffa204
18.6 MB Download
md5:2563da367e465d454a38aec6ce053b7f
526.5 kB Download
md5:2247288a1a82402dbbcd17eb9cc0d577
19.4 MB Download
md5:c02e42ab3bf83aa36524fec4c6082b65
545.0 kB Download
md5:c686cc3755c21eb21889092a54e95b7a
18.7 MB Download
md5:0ce587ea4ebadaaf7926178d3204c209
519.9 kB Download
md5:8faf5cc61e9d9d65eb8cdcf334597e51
17.9 MB Download
md5:7c369f0fc8ab635b495b55f8f63b3b04
562.4 kB Download
md5:be2c1acbfb0033530f823b5262ffd067
17.7 MB Download
md5:159133c38addbe114c10f6509c186ee5
493.1 kB Download
md5:0fc2c8fc9670de4dc4aa071daaba7920
17.9 MB Download
md5:ee2132c2d02413f3188679cf5dd9dedf
497.1 kB Download
md5:2992852605adbbcd58bfefbf47ab3992
17.3 MB Download
md5:7581c5fd4a9c08bfaef7afe7562d0ce0
483.0 kB Download
md5:920066f1dcbb66ebf9e8466951908fbf
698.7 kB Download
md5:f29801131049cf0b4547f58edc1fd625
871.3 kB Download
md5:ff4c22e2fa76a5c2568d7dc27c5338a0
2.4 MB Download
md5:37d312bea47b5e0b55380b98abb71e73
2.1 MB Download
md5:9853946f0b9ff847fe1dedb8d9507f1e
2.6 MB Download
md5:c450abf7cac9c1ed8dedead6f1166f19
2.6 MB Preview Download
md5:000e104438476879785481fe8f17730b
240.5 kB Download
md5:dd1d61bfa0a28b88409c3fb464be4f8a
2.0 MB Download
md5:9d43dc30bf73a987d3813365f75e4618
1.7 MB Download
md5:dd0ec8c162080338075c3ac0e3b71bdd
2.7 MB Download
md5:e1f724dbbe290ef479890efe945fe871
2.4 MB Download
md5:1f6199f47c2b17fa241c52e2ce46f19c
1.1 MB Download
md5:c42ea864f04e1f83809361f0089dcc85
1.3 MB Download
md5:015bd14129fad0f5ad8684facbee6247
1.3 MB Download
md5:824906f61321fecf1e13010285ec4c81
1.2 MB Download
md5:f0468575b6376e5ab3421eb79ea93de0
1.6 MB Download
md5:9edcd6ca7707ff9ec7f75031f415786b
1.5 MB Download
md5:b69f808d6a413839204bcd025f7d7f27
1.5 MB Download
md5:4e55e39827f94cca6513ef0240655293
1.4 MB Download
md5:872e11fc99cedecbbe3241a695a57d65
452.8 kB Download
md5:c10511bee0a853fa09ca29d7b66a6fef
509.2 kB Download
md5:664af0236f6a524607c045ed21bb810e
439.3 kB Download
md5:d3164f0342137ad4a51a7b9f5b090a66
498.9 kB Download
md5:c79b5f2d25f66406b095798255ca2ed4
473.6 kB Download
md5:1df297cb6d008e608b314ec6f2e24bde
599.9 kB Download
md5:4c23290586c699d53b9ccfa61901696a
651.2 kB Download
md5:632d7573347d4f295da02a5dca97d115
665.4 kB Download
md5:68373f92f2293c01e995b59bda60d9da
589.7 kB Download
md5:04a297a682021f37a0d4185536fc0471
711.9 kB Download
md5:5de85f9f93eec87197081960eb07bbd5
845.5 kB Download
md5:5f2a2260d742f984940cb7309974f78a
842.1 kB Download
md5:98bc3dc7a1ac8eca692b10c664334038
553.6 kB Download
md5:4c588aab2cdc71cd4caae516d6717ed1
761.5 kB Download
md5:82b9cc7f539fc7260ebcbf34f37644cf
720.9 kB Download
md5:583b05a816da05d88f5bf5c65f70f189
446.4 kB Download
md5:4d7b0e31c4cedb73dba17a7847da9111
466.9 kB Download
md5:797a3c47fa8e1c9020b9a7c2d943a9b7
483.9 kB Download
md5:32392c704fddaa532a65f40ddb50d55c
1.7 GB Preview Download