Loading…
GENOME ORGANIZATION, FUNCTION, AND IMPRINTING IN PRADER-WILLI AND ANGELMAN SYNDROMES
The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman syndromes (PWS and AS) represents a paradigm for understanding the relationships between genome structure, epigenetics, evolution, and function. The PWS/AS region is conserved in organization and function with the homologous mo...
Saved in:
| Published in: | Annual review of genomics and human genetics 2001-01, Vol.2 (1), p.153-175 |
|---|---|
| Main Authors: | , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-a422t-7322b7907c528d4333376873eaaa1025ef375573507a391ec7541028ac2b2bcd3 |
|---|---|
| cites | cdi_FETCH-LOGICAL-a422t-7322b7907c528d4333376873eaaa1025ef375573507a391ec7541028ac2b2bcd3 |
| container_end_page | 175 |
| container_issue | 1 |
| container_start_page | 153 |
| container_title | Annual review of genomics and human genetics |
| container_volume | 2 |
| creator | Nicholls, Robert D Knepper, Jessica L |
| description | The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman
syndromes (PWS and AS) represents a paradigm for understanding the
relationships between genome structure, epigenetics, evolution, and function.
The PWS/AS region is conserved in organization and function with the homologous
mouse chromosome 7C region. However, the primate 4 Mb PWS/AS region is bounded
by duplicons derived from an ancestral
HERC2
gene and other sequences
that may predispose to chromosome rearrangements. Within a 2 Mb imprinted
domain, gene function depends on parental origin. Genetic evidence suggests
that PWS arises from functional loss of several paternally expressed genes,
including those that function as RNAs, and that AS results from loss of
maternal
UBE3A
brain-specific expression. Imprinted expression is
coordinately controlled in
cis
by an imprinting center (IC), a genetic
element functional in germline and/or early postzygotic development that
regulates the establishment of parental specific allelic differences in
replication timing, DNA methylation, and chromatin structure. |
| doi_str_mv | 10.1146/annurev.genom.2.1.153 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_annua</sourceid><recordid>TN_cdi_proquest_miscellaneous_72262786</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>72262786</sourcerecordid><originalsourceid>FETCH-LOGICAL-a422t-7322b7907c528d4333376873eaaa1025ef375573507a391ec7541028ac2b2bcd3</originalsourceid><addsrcrecordid>eNqNkE1PwkAQhjdGI4r-BE1Pnmzdj263eGug1E3KQgrEj8tmWxaDoQW7VOO_d4EmXp3LTGbe953kAeAGQQ8hP3hQVdXU-st719Wm9LCHPETJCbhA1Kcu7pGX0_2MmRti6HfApTEfEMIw9OE56CDEIAp8dgFmSSzGo9gZZ0kk-Fs042Nx7wznon-cIjFw-GiScTHjInG4cCZZNIgz95mnKT-cI5HE6SgSzvRVDDIbNr0CZ0u1Nvq67V0wH8az_pObjhPej1JX-RjvXEYwzlkPsoLicOETWywIGdFKKQQx1UvCKGWEQqZID-mCUd_uQ1XgHOfFgnTB3TF3W28-G212slyZQq_XqtKbxkiGcYBZGFghPQqLemNMrZdyW69KVf9IBOUep2xxygNOiSWSFqf13bYPmrzUiz9Xy88KHo-CvV-tbcJKf5t_pv8C1sOBCA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>72262786</pqid></control><display><type>article</type><title>GENOME ORGANIZATION, FUNCTION, AND IMPRINTING IN PRADER-WILLI AND ANGELMAN SYNDROMES</title><source>Electronic Back Volume Collection (EBVC)</source><creator>Nicholls, Robert D ; Knepper, Jessica L</creator><creatorcontrib>Nicholls, Robert D ; Knepper, Jessica L</creatorcontrib><description>The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman
syndromes (PWS and AS) represents a paradigm for understanding the
relationships between genome structure, epigenetics, evolution, and function.
The PWS/AS region is conserved in organization and function with the homologous
mouse chromosome 7C region. However, the primate 4 Mb PWS/AS region is bounded
by duplicons derived from an ancestral
HERC2
gene and other sequences
that may predispose to chromosome rearrangements. Within a 2 Mb imprinted
domain, gene function depends on parental origin. Genetic evidence suggests
that PWS arises from functional loss of several paternally expressed genes,
including those that function as RNAs, and that AS results from loss of
maternal
UBE3A
brain-specific expression. Imprinted expression is
coordinately controlled in
cis
by an imprinting center (IC), a genetic
element functional in germline and/or early postzygotic development that
regulates the establishment of parental specific allelic differences in
replication timing, DNA methylation, and chromatin structure.</description><identifier>ISSN: 1527-8204</identifier><identifier>EISSN: 1545-293X</identifier><identifier>DOI: 10.1146/annurev.genom.2.1.153</identifier><identifier>PMID: 11701647</identifier><language>eng</language><publisher>Palo Alto, CA 94303-0139: Annual Reviews</publisher><subject>Angelman Syndrome - genetics ; Animals ; chromatin ; Chromosomes, Human, Pair 15 ; DNA Methylation ; duplicon ; epigenetic ; Genomic Imprinting ; Humans ; polycistronic RNA ; Prader-Willi Syndrome - genetics</subject><ispartof>Annual review of genomics and human genetics, 2001-01, Vol.2 (1), p.153-175</ispartof><rights>Copyright © 2001 by Annual Reviews. All rights reserved</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-a422t-7322b7907c528d4333376873eaaa1025ef375573507a391ec7541028ac2b2bcd3</citedby><cites>FETCH-LOGICAL-a422t-7322b7907c528d4333376873eaaa1025ef375573507a391ec7541028ac2b2bcd3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.annualreviews.org/content/journals/10.1146/annurev.genom.2.1.153?crawler=true&mimetype=application/pdf$$EPDF$$P50$$Gannualreviews$$H</linktopdf><linktohtml>$$Uhttps://www.annualreviews.org/content/journals/10.1146/annurev.genom.2.1.153$$EHTML$$P50$$Gannualreviews$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,78274,78379</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11701647$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nicholls, Robert D</creatorcontrib><creatorcontrib>Knepper, Jessica L</creatorcontrib><title>GENOME ORGANIZATION, FUNCTION, AND IMPRINTING IN PRADER-WILLI AND ANGELMAN SYNDROMES</title><title>Annual review of genomics and human genetics</title><addtitle>Annu Rev Genomics Hum Genet</addtitle><description>The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman
syndromes (PWS and AS) represents a paradigm for understanding the
relationships between genome structure, epigenetics, evolution, and function.
The PWS/AS region is conserved in organization and function with the homologous
mouse chromosome 7C region. However, the primate 4 Mb PWS/AS region is bounded
by duplicons derived from an ancestral
HERC2
gene and other sequences
that may predispose to chromosome rearrangements. Within a 2 Mb imprinted
domain, gene function depends on parental origin. Genetic evidence suggests
that PWS arises from functional loss of several paternally expressed genes,
including those that function as RNAs, and that AS results from loss of
maternal
UBE3A
brain-specific expression. Imprinted expression is
coordinately controlled in
cis
by an imprinting center (IC), a genetic
element functional in germline and/or early postzygotic development that
regulates the establishment of parental specific allelic differences in
replication timing, DNA methylation, and chromatin structure.</description><subject>Angelman Syndrome - genetics</subject><subject>Animals</subject><subject>chromatin</subject><subject>Chromosomes, Human, Pair 15</subject><subject>DNA Methylation</subject><subject>duplicon</subject><subject>epigenetic</subject><subject>Genomic Imprinting</subject><subject>Humans</subject><subject>polycistronic RNA</subject><subject>Prader-Willi Syndrome - genetics</subject><issn>1527-8204</issn><issn>1545-293X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><recordid>eNqNkE1PwkAQhjdGI4r-BE1Pnmzdj263eGug1E3KQgrEj8tmWxaDoQW7VOO_d4EmXp3LTGbe953kAeAGQQ8hP3hQVdXU-st719Wm9LCHPETJCbhA1Kcu7pGX0_2MmRti6HfApTEfEMIw9OE56CDEIAp8dgFmSSzGo9gZZ0kk-Fs042Nx7wznon-cIjFw-GiScTHjInG4cCZZNIgz95mnKT-cI5HE6SgSzvRVDDIbNr0CZ0u1Nvq67V0wH8az_pObjhPej1JX-RjvXEYwzlkPsoLicOETWywIGdFKKQQx1UvCKGWEQqZID-mCUd_uQ1XgHOfFgnTB3TF3W28-G212slyZQq_XqtKbxkiGcYBZGFghPQqLemNMrZdyW69KVf9IBOUep2xxygNOiSWSFqf13bYPmrzUiz9Xy88KHo-CvV-tbcJKf5t_pv8C1sOBCA</recordid><startdate>20010101</startdate><enddate>20010101</enddate><creator>Nicholls, Robert D</creator><creator>Knepper, Jessica L</creator><general>Annual Reviews</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20010101</creationdate><title>GENOME ORGANIZATION, FUNCTION, AND IMPRINTING IN PRADER-WILLI AND ANGELMAN SYNDROMES</title><author>Nicholls, Robert D ; Knepper, Jessica L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-a422t-7322b7907c528d4333376873eaaa1025ef375573507a391ec7541028ac2b2bcd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Angelman Syndrome - genetics</topic><topic>Animals</topic><topic>chromatin</topic><topic>Chromosomes, Human, Pair 15</topic><topic>DNA Methylation</topic><topic>duplicon</topic><topic>epigenetic</topic><topic>Genomic Imprinting</topic><topic>Humans</topic><topic>polycistronic RNA</topic><topic>Prader-Willi Syndrome - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nicholls, Robert D</creatorcontrib><creatorcontrib>Knepper, Jessica L</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Annual review of genomics and human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nicholls, Robert D</au><au>Knepper, Jessica L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>GENOME ORGANIZATION, FUNCTION, AND IMPRINTING IN PRADER-WILLI AND ANGELMAN SYNDROMES</atitle><jtitle>Annual review of genomics and human genetics</jtitle><addtitle>Annu Rev Genomics Hum Genet</addtitle><date>2001-01-01</date><risdate>2001</risdate><volume>2</volume><issue>1</issue><spage>153</spage><epage>175</epage><pages>153-175</pages><issn>1527-8204</issn><eissn>1545-293X</eissn><abstract>The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman
syndromes (PWS and AS) represents a paradigm for understanding the
relationships between genome structure, epigenetics, evolution, and function.
The PWS/AS region is conserved in organization and function with the homologous
mouse chromosome 7C region. However, the primate 4 Mb PWS/AS region is bounded
by duplicons derived from an ancestral
HERC2
gene and other sequences
that may predispose to chromosome rearrangements. Within a 2 Mb imprinted
domain, gene function depends on parental origin. Genetic evidence suggests
that PWS arises from functional loss of several paternally expressed genes,
including those that function as RNAs, and that AS results from loss of
maternal
UBE3A
brain-specific expression. Imprinted expression is
coordinately controlled in
cis
by an imprinting center (IC), a genetic
element functional in germline and/or early postzygotic development that
regulates the establishment of parental specific allelic differences in
replication timing, DNA methylation, and chromatin structure.</abstract><cop>Palo Alto, CA 94303-0139</cop><cop>4139 El Camino Way, P.O. Box 10139</cop><cop>USA</cop><pub>Annual Reviews</pub><pmid>11701647</pmid><doi>10.1146/annurev.genom.2.1.153</doi><tpages>23</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1527-8204 |
| ispartof | Annual review of genomics and human genetics, 2001-01, Vol.2 (1), p.153-175 |
| issn | 1527-8204 1545-293X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_72262786 |
| source | Electronic Back Volume Collection (EBVC) |
| subjects | Angelman Syndrome - genetics Animals chromatin Chromosomes, Human, Pair 15 DNA Methylation duplicon epigenetic Genomic Imprinting Humans polycistronic RNA Prader-Willi Syndrome - genetics |
| title | GENOME ORGANIZATION, FUNCTION, AND IMPRINTING IN PRADER-WILLI AND ANGELMAN SYNDROMES |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-29T12%3A50%3A59IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_annua&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=GENOME%20ORGANIZATION,%20FUNCTION,%20AND%20IMPRINTING%20IN%20PRADER-WILLI%20AND%20ANGELMAN%20SYNDROMES&rft.jtitle=Annual%20review%20of%20genomics%20and%20human%20genetics&rft.au=Nicholls,%20Robert%20D&rft.date=2001-01-01&rft.volume=2&rft.issue=1&rft.spage=153&rft.epage=175&rft.pages=153-175&rft.issn=1527-8204&rft.eissn=1545-293X&rft_id=info:doi/10.1146/annurev.genom.2.1.153&rft_dat=%3Cproquest_annua%3E72262786%3C/proquest_annua%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-a422t-7322b7907c528d4333376873eaaa1025ef375573507a391ec7541028ac2b2bcd3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=72262786&rft_id=info:pmid/11701647&rfr_iscdi=true |