Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16
We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes. This region can be subdiv...
Gespeichert in:
| Veröffentlicht in: | Human molecular genetics 2001-02, Vol.10 (4), p.339-352 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 352 |
|---|---|
| container_issue | 4 |
| container_start_page | 339 |
| container_title | Human molecular genetics |
| container_volume | 10 |
| creator | DANIELS, Rachael J PEDEN, John F HIGGS, Douglas R LLOYD, Christine HORSLEY, Sharon W CLARK, Kevin TUFARELLI, Cristina KEARNEY, Lyndal BUCKLE, Veronica J DOGGETT, Norman A FLINT, Jonathan |
| description | We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes. This region can be subdivided into two GC-rich, Alu-rich domains and one GC-rich, Alu-poor domain. The entire region is extremely gene rich, containing 100 confirmed genes and 20 predicted genes. Many of the genes encode widely expressed proteins orchestrating basic cellular processes (e.g. DNA recombination, repair, transcription, RNA processing, signal transduction, intracellular signalling and mRNA translation). Others, such as the alpha globin genes (HBA1 and HBA2), PDIP and BAIAP3, are specialized tissue-restricted genes. Some of the genes have been previously implicated in the pathophysiology of important human genetic diseases (e.g. asthma, cataracts and the ATR-16 syndrome). Others are known disease genes for alpha thalassaemia, adult polycystic kidney disease and tuberous sclerosis. There is also linkage evidence for bipolar affective disorder, epilepsy and autism in this region. Sixty-three chromosomal deletions reported here and elsewhere allow us to interpret the results of removing progressively larger numbers of genes from this well defined human telomeric region. |
| doi_str_mv | 10.1093/hmg/10.4.339 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_70631719</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>17827368</sourcerecordid><originalsourceid>FETCH-LOGICAL-c506t-dcb7643c895ace005696c1b7a09d599ae37ff139a8cd1e01f2d4829b3aba59ce3</originalsourceid><addsrcrecordid>eNqF0cFu1DAQBmALgei2cOOMLCpxalqPndjxEVWlIBX1UDhHE2fSbBXHi-0c9u3xqgtIXDh55Pk0mtHP2DsQlyCsupr841Wp60ul7Au2gVqLSopWvWQbYXVdaSv0CTtN6UkI0LUyr9kJADTGWLNhywP9XGlxdMFTjqvLaySOy8B3mKcwh8c9DyPPE_Fxned9aS0hY6aBZ4p-u-DMJf_W_0ZpCjFzjP7wMa0eF-6mGHxIwRMH_Ya9GnFO9Pb4nrEfn2--X3-p7u5vv15_uqtcI3SuBtebsqprbYOOhGi01Q56g8IOjbVIyowjKIutG4AEjHKoW2l7hT021pE6Yx-f5-5iKPel3PltcjTPuFBYU2eEVmDA_heCaaVRui3wwz_wKayx3J86CSBBtrYu6OIZuRhSijR2u7j1GPcdiO6QVlfSOtR1V9Iq_P1x5tp7Gv7iYzwFnB8BJofzGHFx2_THWSG1UuoXMkGcYQ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>211212894</pqid></control><display><type>article</type><title>Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16</title><source>Oxford University Press Journals All Titles (1996-Current)</source><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><creator>DANIELS, Rachael J ; PEDEN, John F ; HIGGS, Douglas R ; LLOYD, Christine ; HORSLEY, Sharon W ; CLARK, Kevin ; TUFARELLI, Cristina ; KEARNEY, Lyndal ; BUCKLE, Veronica J ; DOGGETT, Norman A ; FLINT, Jonathan</creator><creatorcontrib>DANIELS, Rachael J ; PEDEN, John F ; HIGGS, Douglas R ; LLOYD, Christine ; HORSLEY, Sharon W ; CLARK, Kevin ; TUFARELLI, Cristina ; KEARNEY, Lyndal ; BUCKLE, Veronica J ; DOGGETT, Norman A ; FLINT, Jonathan</creatorcontrib><description>We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes. This region can be subdivided into two GC-rich, Alu-rich domains and one GC-rich, Alu-poor domain. The entire region is extremely gene rich, containing 100 confirmed genes and 20 predicted genes. Many of the genes encode widely expressed proteins orchestrating basic cellular processes (e.g. DNA recombination, repair, transcription, RNA processing, signal transduction, intracellular signalling and mRNA translation). Others, such as the alpha globin genes (HBA1 and HBA2), PDIP and BAIAP3, are specialized tissue-restricted genes. Some of the genes have been previously implicated in the pathophysiology of important human genetic diseases (e.g. asthma, cataracts and the ATR-16 syndrome). Others are known disease genes for alpha thalassaemia, adult polycystic kidney disease and tuberous sclerosis. There is also linkage evidence for bipolar affective disorder, epilepsy and autism in this region. Sixty-three chromosomal deletions reported here and elsewhere allow us to interpret the results of removing progressively larger numbers of genes from this well defined human telomeric region.</description><identifier>ISSN: 0964-6906</identifier><identifier>ISSN: 1460-2083</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/10.4.339</identifier><identifier>PMID: 11157797</identifier><identifier>CODEN: HNGEE5</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adolescent ; alpha-Thalassemia - genetics ; Animals ; Asthma - genetics ; BAIAP3 gene ; Base Composition ; Biological and medical sciences ; Bipolar Disorder - genetics ; Child ; Child, Preschool ; chromosome 16 ; Chromosomes, Human, Pair 16 - chemistry ; Chromosomes, Human, Pair 16 - genetics ; CpG Islands - genetics ; Epilepsy - genetics ; Female ; Genetic Linkage - genetics ; HBA1 gene ; HBA2 gene ; Humans ; Intellectual Disability - genetics ; Male ; Medical sciences ; Mice ; Monosomy ; Neurology ; PDIP gene ; Phenotype ; Physical Chromosome Mapping ; Polycystic Kidney, Autosomal Dominant - genetics ; Recombination, Genetic ; Sequence Analysis, DNA ; Syndrome ; Telomere - chemistry ; Telomere - genetics ; TSC2 gene ; Tuberous Sclerosis - genetics ; tuberous sclerosis disease 2 ; Tumors of the nervous system. Phacomatoses</subject><ispartof>Human molecular genetics, 2001-02, Vol.10 (4), p.339-352</ispartof><rights>2001 INIST-CNRS</rights><rights>Copyright Oxford University Press(England) Feb 15, 2001</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c506t-dcb7643c895ace005696c1b7a09d599ae37ff139a8cd1e01f2d4829b3aba59ce3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=902633$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11157797$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DANIELS, Rachael J</creatorcontrib><creatorcontrib>PEDEN, John F</creatorcontrib><creatorcontrib>HIGGS, Douglas R</creatorcontrib><creatorcontrib>LLOYD, Christine</creatorcontrib><creatorcontrib>HORSLEY, Sharon W</creatorcontrib><creatorcontrib>CLARK, Kevin</creatorcontrib><creatorcontrib>TUFARELLI, Cristina</creatorcontrib><creatorcontrib>KEARNEY, Lyndal</creatorcontrib><creatorcontrib>BUCKLE, Veronica J</creatorcontrib><creatorcontrib>DOGGETT, Norman A</creatorcontrib><creatorcontrib>FLINT, Jonathan</creatorcontrib><title>Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes. This region can be subdivided into two GC-rich, Alu-rich domains and one GC-rich, Alu-poor domain. The entire region is extremely gene rich, containing 100 confirmed genes and 20 predicted genes. Many of the genes encode widely expressed proteins orchestrating basic cellular processes (e.g. DNA recombination, repair, transcription, RNA processing, signal transduction, intracellular signalling and mRNA translation). Others, such as the alpha globin genes (HBA1 and HBA2), PDIP and BAIAP3, are specialized tissue-restricted genes. Some of the genes have been previously implicated in the pathophysiology of important human genetic diseases (e.g. asthma, cataracts and the ATR-16 syndrome). Others are known disease genes for alpha thalassaemia, adult polycystic kidney disease and tuberous sclerosis. There is also linkage evidence for bipolar affective disorder, epilepsy and autism in this region. Sixty-three chromosomal deletions reported here and elsewhere allow us to interpret the results of removing progressively larger numbers of genes from this well defined human telomeric region.</description><subject>Adolescent</subject><subject>alpha-Thalassemia - genetics</subject><subject>Animals</subject><subject>Asthma - genetics</subject><subject>BAIAP3 gene</subject><subject>Base Composition</subject><subject>Biological and medical sciences</subject><subject>Bipolar Disorder - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>chromosome 16</subject><subject>Chromosomes, Human, Pair 16 - chemistry</subject><subject>Chromosomes, Human, Pair 16 - genetics</subject><subject>CpG Islands - genetics</subject><subject>Epilepsy - genetics</subject><subject>Female</subject><subject>Genetic Linkage - genetics</subject><subject>HBA1 gene</subject><subject>HBA2 gene</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mice</subject><subject>Monosomy</subject><subject>Neurology</subject><subject>PDIP gene</subject><subject>Phenotype</subject><subject>Physical Chromosome Mapping</subject><subject>Polycystic Kidney, Autosomal Dominant - genetics</subject><subject>Recombination, Genetic</subject><subject>Sequence Analysis, DNA</subject><subject>Syndrome</subject><subject>Telomere - chemistry</subject><subject>Telomere - genetics</subject><subject>TSC2 gene</subject><subject>Tuberous Sclerosis - genetics</subject><subject>tuberous sclerosis disease 2</subject><subject>Tumors of the nervous system. Phacomatoses</subject><issn>0964-6906</issn><issn>1460-2083</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0cFu1DAQBmALgei2cOOMLCpxalqPndjxEVWlIBX1UDhHE2fSbBXHi-0c9u3xqgtIXDh55Pk0mtHP2DsQlyCsupr841Wp60ul7Au2gVqLSopWvWQbYXVdaSv0CTtN6UkI0LUyr9kJADTGWLNhywP9XGlxdMFTjqvLaySOy8B3mKcwh8c9DyPPE_Fxned9aS0hY6aBZ4p-u-DMJf_W_0ZpCjFzjP7wMa0eF-6mGHxIwRMH_Ya9GnFO9Pb4nrEfn2--X3-p7u5vv15_uqtcI3SuBtebsqprbYOOhGi01Q56g8IOjbVIyowjKIutG4AEjHKoW2l7hT021pE6Yx-f5-5iKPel3PltcjTPuFBYU2eEVmDA_heCaaVRui3wwz_wKayx3J86CSBBtrYu6OIZuRhSijR2u7j1GPcdiO6QVlfSOtR1V9Iq_P1x5tp7Gv7iYzwFnB8BJofzGHFx2_THWSG1UuoXMkGcYQ</recordid><startdate>20010215</startdate><enddate>20010215</enddate><creator>DANIELS, Rachael J</creator><creator>PEDEN, John F</creator><creator>HIGGS, Douglas R</creator><creator>LLOYD, Christine</creator><creator>HORSLEY, Sharon W</creator><creator>CLARK, Kevin</creator><creator>TUFARELLI, Cristina</creator><creator>KEARNEY, Lyndal</creator><creator>BUCKLE, Veronica J</creator><creator>DOGGETT, Norman A</creator><creator>FLINT, Jonathan</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>IQODW</scope><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>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20010215</creationdate><title>Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16</title><author>DANIELS, Rachael J ; PEDEN, John F ; HIGGS, Douglas R ; LLOYD, Christine ; HORSLEY, Sharon W ; CLARK, Kevin ; TUFARELLI, Cristina ; KEARNEY, Lyndal ; BUCKLE, Veronica J ; DOGGETT, Norman A ; FLINT, Jonathan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c506t-dcb7643c895ace005696c1b7a09d599ae37ff139a8cd1e01f2d4829b3aba59ce3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adolescent</topic><topic>alpha-Thalassemia - genetics</topic><topic>Animals</topic><topic>Asthma - genetics</topic><topic>BAIAP3 gene</topic><topic>Base Composition</topic><topic>Biological and medical sciences</topic><topic>Bipolar Disorder - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>chromosome 16</topic><topic>Chromosomes, Human, Pair 16 - chemistry</topic><topic>Chromosomes, Human, Pair 16 - genetics</topic><topic>CpG Islands - genetics</topic><topic>Epilepsy - genetics</topic><topic>Female</topic><topic>Genetic Linkage - genetics</topic><topic>HBA1 gene</topic><topic>HBA2 gene</topic><topic>Humans</topic><topic>Intellectual Disability - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mice</topic><topic>Monosomy</topic><topic>Neurology</topic><topic>PDIP gene</topic><topic>Phenotype</topic><topic>Physical Chromosome Mapping</topic><topic>Polycystic Kidney, Autosomal Dominant - genetics</topic><topic>Recombination, Genetic</topic><topic>Sequence Analysis, DNA</topic><topic>Syndrome</topic><topic>Telomere - chemistry</topic><topic>Telomere - genetics</topic><topic>TSC2 gene</topic><topic>Tuberous Sclerosis - genetics</topic><topic>tuberous sclerosis disease 2</topic><topic>Tumors of the nervous system. Phacomatoses</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>DANIELS, Rachael J</creatorcontrib><creatorcontrib>PEDEN, John F</creatorcontrib><creatorcontrib>HIGGS, Douglas R</creatorcontrib><creatorcontrib>LLOYD, Christine</creatorcontrib><creatorcontrib>HORSLEY, Sharon W</creatorcontrib><creatorcontrib>CLARK, Kevin</creatorcontrib><creatorcontrib>TUFARELLI, Cristina</creatorcontrib><creatorcontrib>KEARNEY, Lyndal</creatorcontrib><creatorcontrib>BUCKLE, Veronica J</creatorcontrib><creatorcontrib>DOGGETT, Norman A</creatorcontrib><creatorcontrib>FLINT, Jonathan</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>DANIELS, Rachael J</au><au>PEDEN, John F</au><au>HIGGS, Douglas R</au><au>LLOYD, Christine</au><au>HORSLEY, Sharon W</au><au>CLARK, Kevin</au><au>TUFARELLI, Cristina</au><au>KEARNEY, Lyndal</au><au>BUCKLE, Veronica J</au><au>DOGGETT, Norman A</au><au>FLINT, Jonathan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>2001-02-15</date><risdate>2001</risdate><volume>10</volume><issue>4</issue><spage>339</spage><epage>352</epage><pages>339-352</pages><issn>0964-6906</issn><issn>1460-2083</issn><eissn>1460-2083</eissn><coden>HNGEE5</coden><abstract>We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes. This region can be subdivided into two GC-rich, Alu-rich domains and one GC-rich, Alu-poor domain. The entire region is extremely gene rich, containing 100 confirmed genes and 20 predicted genes. Many of the genes encode widely expressed proteins orchestrating basic cellular processes (e.g. DNA recombination, repair, transcription, RNA processing, signal transduction, intracellular signalling and mRNA translation). Others, such as the alpha globin genes (HBA1 and HBA2), PDIP and BAIAP3, are specialized tissue-restricted genes. Some of the genes have been previously implicated in the pathophysiology of important human genetic diseases (e.g. asthma, cataracts and the ATR-16 syndrome). Others are known disease genes for alpha thalassaemia, adult polycystic kidney disease and tuberous sclerosis. There is also linkage evidence for bipolar affective disorder, epilepsy and autism in this region. Sixty-three chromosomal deletions reported here and elsewhere allow us to interpret the results of removing progressively larger numbers of genes from this well defined human telomeric region.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>11157797</pmid><doi>10.1093/hmg/10.4.339</doi><tpages>14</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0964-6906 |
| ispartof | Human molecular genetics, 2001-02, Vol.10 (4), p.339-352 |
| issn | 0964-6906 1460-2083 1460-2083 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_70631719 |
| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Adolescent alpha-Thalassemia - genetics Animals Asthma - genetics BAIAP3 gene Base Composition Biological and medical sciences Bipolar Disorder - genetics Child Child, Preschool chromosome 16 Chromosomes, Human, Pair 16 - chemistry Chromosomes, Human, Pair 16 - genetics CpG Islands - genetics Epilepsy - genetics Female Genetic Linkage - genetics HBA1 gene HBA2 gene Humans Intellectual Disability - genetics Male Medical sciences Mice Monosomy Neurology PDIP gene Phenotype Physical Chromosome Mapping Polycystic Kidney, Autosomal Dominant - genetics Recombination, Genetic Sequence Analysis, DNA Syndrome Telomere - chemistry Telomere - genetics TSC2 gene Tuberous Sclerosis - genetics tuberous sclerosis disease 2 Tumors of the nervous system. Phacomatoses |
| title | Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-09T02%3A43%3A52IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Sequence,%20structure%20and%20pathology%20of%20the%20fully%20annotated%20terminal%202%20Mb%20of%20the%20short%20arm%20of%20human%20chromosome%2016&rft.jtitle=Human%20molecular%20genetics&rft.au=DANIELS,%20Rachael%20J&rft.date=2001-02-15&rft.volume=10&rft.issue=4&rft.spage=339&rft.epage=352&rft.pages=339-352&rft.issn=0964-6906&rft.eissn=1460-2083&rft.coden=HNGEE5&rft_id=info:doi/10.1093/hmg/10.4.339&rft_dat=%3Cproquest_cross%3E17827368%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=211212894&rft_id=info:pmid/11157797&rfr_iscdi=true |