Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene.
The 5q- syndrome is a myelodysplastic syndrome with the 5q deletion as the sole karyotypic abnormality. The human ATX1 homologue (HAH1), encodes a copper-binding protein with a role in antioxidant defence. We have mapped this gene to the 3 Mb critical region of gene loss of the 5q- syndrome within 5...
| Main Authors: | , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
2000
|
| _version_ | 1797053827831037952 |
|---|---|
| author | Boultwood, J Strickson, A Jabs, E Cheng, J Fidler, C Wainscoat, J |
| author_facet | Boultwood, J Strickson, A Jabs, E Cheng, J Fidler, C Wainscoat, J |
| author_sort | Boultwood, J |
| collection | OXFORD |
| description | The 5q- syndrome is a myelodysplastic syndrome with the 5q deletion as the sole karyotypic abnormality. The human ATX1 homologue (HAH1), encodes a copper-binding protein with a role in antioxidant defence. We have mapped this gene to the 3 Mb critical region of gene loss of the 5q- syndrome within 5q32, flanked by the genes for ADRB2 and IL12B, using gene dosage analysis. Fine physical mapping of the HAH1 gene within this genomic interval was then performed by screening YAC and BAC contigs spanning the critical region of the 5q- syndrome using PCR amplification. The HAH1 gene maps immediately adjacent to the SPARC gene at 5q32, and is flanked by the genetic markers D5S1838 and D5S1419. The HAH1 gene is expressed in haematological tissues and plays a role in antioxidant defence. Antioxidant levels are low in most cancers and the importance of antioxidant enzymes in cancer genesis is well recognised. Genomic localisation, function and expression would suggest that the HAH1 gene represents a candidate gene for the 5q-syndrome. |
| first_indexed | 2024-03-06T18:49:02Z |
| format | Journal article |
| id | oxford-uuid:0f8b0e1b-2be3-4f2b-9d43-795314d8b863 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T18:49:02Z |
| publishDate | 2000 |
| record_format | dspace |
| spelling | oxford-uuid:0f8b0e1b-2be3-4f2b-9d43-795314d8b8632022-03-26T09:51:46ZPhysical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:0f8b0e1b-2be3-4f2b-9d43-795314d8b863EnglishSymplectic Elements at Oxford2000Boultwood, JStrickson, AJabs, ECheng, JFidler, CWainscoat, JThe 5q- syndrome is a myelodysplastic syndrome with the 5q deletion as the sole karyotypic abnormality. The human ATX1 homologue (HAH1), encodes a copper-binding protein with a role in antioxidant defence. We have mapped this gene to the 3 Mb critical region of gene loss of the 5q- syndrome within 5q32, flanked by the genes for ADRB2 and IL12B, using gene dosage analysis. Fine physical mapping of the HAH1 gene within this genomic interval was then performed by screening YAC and BAC contigs spanning the critical region of the 5q- syndrome using PCR amplification. The HAH1 gene maps immediately adjacent to the SPARC gene at 5q32, and is flanked by the genetic markers D5S1838 and D5S1419. The HAH1 gene is expressed in haematological tissues and plays a role in antioxidant defence. Antioxidant levels are low in most cancers and the importance of antioxidant enzymes in cancer genesis is well recognised. Genomic localisation, function and expression would suggest that the HAH1 gene represents a candidate gene for the 5q-syndrome. |
| spellingShingle | Boultwood, J Strickson, A Jabs, E Cheng, J Fidler, C Wainscoat, J Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. |
| title | Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. |
| title_full | Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. |
| title_fullStr | Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. |
| title_full_unstemmed | Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. |
| title_short | Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. |
| title_sort | physical mapping of the human atx1 homologue hah1 to the critical region of the 5q syndrome within 5q32 and immediately adjacent to the sparc gene |
| work_keys_str_mv | AT boultwoodj physicalmappingofthehumanatx1homologuehah1tothecriticalregionofthe5qsyndromewithin5q32andimmediatelyadjacenttothesparcgene AT stricksona physicalmappingofthehumanatx1homologuehah1tothecriticalregionofthe5qsyndromewithin5q32andimmediatelyadjacenttothesparcgene AT jabse physicalmappingofthehumanatx1homologuehah1tothecriticalregionofthe5qsyndromewithin5q32andimmediatelyadjacenttothesparcgene AT chengj physicalmappingofthehumanatx1homologuehah1tothecriticalregionofthe5qsyndromewithin5q32andimmediatelyadjacenttothesparcgene AT fidlerc physicalmappingofthehumanatx1homologuehah1tothecriticalregionofthe5qsyndromewithin5q32andimmediatelyadjacenttothesparcgene AT wainscoatj physicalmappingofthehumanatx1homologuehah1tothecriticalregionofthe5qsyndromewithin5q32andimmediatelyadjacenttothesparcgene |