HOXA2: Difference between revisions
Content deleted Content added
mNo edit summary |
expansion |
||
| Line 1: | Line 1: | ||
{{PBB|geneid=3199}} |
|||
'''Homeobox protein Hox-A2''' is a [[protein]] that in humans is encoded by the ''HOXA2'' [[gene]]. |
|||
'''Homeobox protein Hox-A2''' is a [[protein]] that in humans is encoded by the ''HOXA2'' [[gene]].<ref name="pmid1358459">{{cite journal | author = Scott MP | title = Vertebrate homeobox gene nomenclature | journal = Cell | volume = 71 | issue = 4 | pages = 551–3 | year = 1992 | month = November | pmid = 1358459 | doi = | url = | issn = }}</ref> |
|||
== Function == |
|||
| ⚫ | In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.<ref name="entrez">{{cite web | title = Entrez Gene: HOXA2 homeobox A2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3199| accessdate = }}</ref> |
||
| ⚫ | In vertebrates, the genes encoding the class of transcription factors called [[homeobox]] genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.<ref name="entrez">{{cite web | title = Entrez Gene: HOXA2 homeobox A2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3199| accessdate = }}</ref> |
||
HOXA2 controls the embryonic development of the lower and middle part of the face and of the [[middle ear]]. Mutations in it are known to cause [[microtia]], [[hearing impairment]], and [[cleft palate]]. |
HOXA2 controls the embryonic development of the lower and middle part of the face and of the [[middle ear]]. Mutations in it are known to cause [[microtia]], [[hearing impairment]], and [[cleft palate]]. |
||
| Line 8: | Line 10: | ||
==See also== |
==See also== |
||
* [[Homeobox]] |
* [[Homeobox]] |
||
==References== |
==References== |
||
{{Reflist}} |
|||
<references/> |
|||
==Further reading== |
|||
{{refbegin | 2}} |
|||
*{{cite journal |author=Alasti F, Sadeghi A, Sanati MH, ''et al.'' |title=A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. |journal=Am. J. Hum. Genet. |volume=82 |issue= 4 |pages= 982-91 |year= 2008 |pmid= 18394579 |doi= 10.1016/j.ajhg.2008.02.015 }} |
|||
*{{cite journal |author=Kosaki K, Kosaki R, Suzuki T, ''et al.'' |title=Complete mutation analysis panel of the 39 human HOX genes. |journal=Teratology |volume=65 |issue= 2 |pages= 50-62 |year= 2002 |pmid= 11857506 |doi= 10.1002/tera.10009 }} |
|||
*{{cite journal |author=Scherer SW, Cheung J, MacDonald JR, ''et al.'' |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767-72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423 }} |
|||
*{{cite journal |author=Hillier LW, Fulton RS, Fulton LA, ''et al.'' |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157-64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }} |
|||
*{{cite journal |author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }} |
|||
*{{cite journal |author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }} |
|||
*{{cite journal |author=Scott MP |title=Vertebrate homeobox gene nomenclature. |journal=Cell |volume=71 |issue= 4 |pages= 551-3 |year= 1992 |pmid= 1358459 |doi= }} |
|||
*{{cite journal |author=Yerges LM, Klei L, Cauley JA, ''et al.'' |title=A High-Density Association Study of 383 Candidate Genes for Volumetric Bone Density at the Femoral Neck and Lumbar Spine among Older Men. |journal=J. Bone Miner. Res. |volume= |issue= |pages= HASH(0x250f0d0) |year= 2009 |pmid= 19453261 |doi= 10.1359/jbmr.090524 }} |
|||
*{{cite journal |author=Apiou F, Flagiello D, Cillo C, ''et al.'' |title=Fine mapping of human HOX gene clusters. |journal=Cytogenet. Cell Genet. |volume=73 |issue= 1-2 |pages= 114-5 |year= 1996 |pmid= 8646877 |doi= }} |
|||
{{refend}} |
|||
{{gene-7-stub}} |
{{gene-7-stub}} |
||
{{Transcription factors|g3}} |
{{Transcription factors|g3}} |
||
Revision as of 19:34, 20 October 2009
Template:PBB Homeobox protein Hox-A2 is a protein that in humans is encoded by the HOXA2 gene.[1]
Function
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.[2]
HOXA2 controls the embryonic development of the lower and middle part of the face and of the middle ear. Mutations in it are known to cause microtia, hearing impairment, and cleft palate.
See also
References
- ^ Scott MP (1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. PMID 1358459.
{{cite journal}}: Unknown parameter|month=ignored (help) - ^ "Entrez Gene: HOXA2 homeobox A2".
Further reading
- Alasti F, Sadeghi A, Sanati MH; et al. (2008). "A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family". Am. J. Hum. Genet. 82 (4): 982–91. doi:10.1016/j.ajhg.2008.02.015. PMID 18394579.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Kosaki K, Kosaki R, Suzuki T; et al. (2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID 11857506.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Scherer SW, Cheung J, MacDonald JR; et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Hillier LW, Fulton RS, Fulton LA; et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Strausberg RL, Feingold EA, Grouse LH; et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Scott MP (1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. PMID 1358459.
- Yerges LM, Klei L, Cauley JA; et al. (2009). "A High-Density Association Study of 383 Candidate Genes for Volumetric Bone Density at the Femoral Neck and Lumbar Spine among Older Men". J. Bone Miner. Res.: HASH(0x250f0d0). doi:10.1359/jbmr.090524. PMID 19453261.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Apiou F, Flagiello D, Cillo C; et al. (1996). "Fine mapping of human HOX gene clusters". Cytogenet. Cell Genet. 73 (1–2): 114–5. PMID 8646877.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link)
 | This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it. |