Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.
We have examined the phenotypic effects of 21 independent deletions from the fully sequenced and annotated 356 kb telomeric region of the short arm of chromosome 16 (16p13.3). Fifteen genes contained within this region have been highly conserved throughout evolution and encode proteins involved in i...
| Asıl Yazarlar: | , , , , , , , , , , , , , , , |
|---|---|
| Materyal Türü: | Journal article |
| Dil: | English |
| Baskı/Yayın Bilgisi: |
2001
|
| _version_ | 1826302298517667840 |
|---|---|
| author | Horsley, S Daniels, R Anguita, E Raynham, H Peden, J Villegas, A Vickers, M Green, S Waye, J Chui, D Ayyub, H MacCarthy, AB Buckle, V Gibbons, R Kearney, L Higgs, D |
| author_facet | Horsley, S Daniels, R Anguita, E Raynham, H Peden, J Villegas, A Vickers, M Green, S Waye, J Chui, D Ayyub, H MacCarthy, AB Buckle, V Gibbons, R Kearney, L Higgs, D |
| author_sort | Horsley, S |
| collection | OXFORD |
| description | We have examined the phenotypic effects of 21 independent deletions from the fully sequenced and annotated 356 kb telomeric region of the short arm of chromosome 16 (16p13.3). Fifteen genes contained within this region have been highly conserved throughout evolution and encode proteins involved in important housekeeping functions, synthesis of haemoglobin, signalling pathways and critical developmental pathways. Although a priori many of these genes would be considered candidates for critical haploinsufficient genes, none of the deletions within the 356 kb interval cause any discernible phenotype other than alpha thalassaemia whether inherited via the maternal or paternal line. These findings contrast with previous observations on patients with larger (> 1 Mb) deletions from the 16p telomere and therefore address the mechanisms by which monosomy gives rise to human genetic disease. |
| first_indexed | 2024-03-07T05:45:27Z |
| format | Journal article |
| id | oxford-uuid:e7135c80-ee2c-4ec8-9632-c8f466f2b48f |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T05:45:27Z |
| publishDate | 2001 |
| record_format | dspace |
| spelling | oxford-uuid:e7135c80-ee2c-4ec8-9632-c8f466f2b48f2022-03-27T10:35:48ZMonosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:e7135c80-ee2c-4ec8-9632-c8f466f2b48fEnglishSymplectic Elements at Oxford2001Horsley, SDaniels, RAnguita, ERaynham, HPeden, JVillegas, AVickers, MGreen, SWaye, JChui, DAyyub, HMacCarthy, ABBuckle, VGibbons, RKearney, LHiggs, DWe have examined the phenotypic effects of 21 independent deletions from the fully sequenced and annotated 356 kb telomeric region of the short arm of chromosome 16 (16p13.3). Fifteen genes contained within this region have been highly conserved throughout evolution and encode proteins involved in important housekeeping functions, synthesis of haemoglobin, signalling pathways and critical developmental pathways. Although a priori many of these genes would be considered candidates for critical haploinsufficient genes, none of the deletions within the 356 kb interval cause any discernible phenotype other than alpha thalassaemia whether inherited via the maternal or paternal line. These findings contrast with previous observations on patients with larger (> 1 Mb) deletions from the 16p telomere and therefore address the mechanisms by which monosomy gives rise to human genetic disease. |
| spellingShingle | Horsley, S Daniels, R Anguita, E Raynham, H Peden, J Villegas, A Vickers, M Green, S Waye, J Chui, D Ayyub, H MacCarthy, AB Buckle, V Gibbons, R Kearney, L Higgs, D Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. |
| title | Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. |
| title_full | Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. |
| title_fullStr | Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. |
| title_full_unstemmed | Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. |
| title_short | Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. |
| title_sort | monosomy for the most telomeric gene rich region of the short arm of human chromosome 16 causes minimal phenotypic effects |
| work_keys_str_mv | AT horsleys monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT danielsr monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT anguitae monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT raynhamh monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT pedenj monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT villegasa monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT vickersm monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT greens monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT wayej monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT chuid monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT ayyubh monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT maccarthyab monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT bucklev monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT gibbonsr monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT kearneyl monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects AT higgsd monosomyforthemosttelomericgenerichregionoftheshortarmofhumanchromosome16causesminimalphenotypiceffects |