Microcephaly: tracing the evolutionary lineage of ASPM gene.
Objective: Microcephaly, in the form of congenital autosomal recessive disorder (MCPH), is characterized by the reduced occipital frontal head circumference >3 standard deviation of otherwise normal population of matching age and sex. The disease is primarily associated with mild to severe menta...
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| Format: | Article |
| Language: | English |
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Dow University of Health Sciences
2010-08-01
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| Series: | Journal of the Dow University of Health Sciences |
| Subjects: | |
| Online Access: | https://www.jduhs.com/index.php/jduhs/article/view/1321 |
| _version_ | 1797817554246303744 |
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| author | Mushtaq Hussain Muhammad Asif Qureshi Rafiq Muhammad Khanani Abdul Wajid Shaheen Shoaib Sharafat Talat Mirza |
| author_facet | Mushtaq Hussain Muhammad Asif Qureshi Rafiq Muhammad Khanani Abdul Wajid Shaheen Shoaib Sharafat Talat Mirza |
| author_sort | Mushtaq Hussain |
| collection | DOAJ |
| description |
Objective: Microcephaly, in the form of congenital autosomal recessive disorder (MCPH), is characterized by the reduced occipital frontal head circumference >3 standard deviation of otherwise normal population of matching age and sex. The disease is primarily associated with mild to severe mental retardation. Earlier studies have unravelled that among Pakistan population, mutations in ASPM gene is strongly associated in MCPH.
Experimental Methods: cDNA gene and protein sequences of ASPM gene were retrieved from NCBI database and subjected to the non-redundant BLAST. Consensus phylogenetic tree was developed after multiple sequence alignment and bootstrapping of the protein sequences of ASPM gene from different mammals using Neighbour Joining method, selecting non mammals as an out group. Comparisons of the gene synteny and exon and intron patterns of ASPM gene were also undertaken to investigate chromosomal changes during the course of human evolution. Different statistical evolutionary models namely,
Results: Phylogenetic tree based on ASPM gene clearly segregated all non mammalian members as an out group. Mammalian in group holds the established evolutionary lineage, based on morpho-genetic attributes of mammalian evolution, segregating monotremes at the beginning followed by the members of rodentia and finally radiation of the primates including humans. Orientation of the ASPM gene remains conserved between human and chimpanzee, however, it was found reversed along with the flanking genes, a zinc finger binding domain 41 and coagulation factor XIII, which suggest relatively recent event of gene inversion.
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| first_indexed | 2024-03-13T08:55:13Z |
| format | Article |
| id | doaj.art-4117577e089b48e8b6d19faf1c968f1a |
| institution | Directory Open Access Journal |
| issn | 1995-2198 2410-2180 |
| language | English |
| last_indexed | 2024-03-13T08:55:13Z |
| publishDate | 2010-08-01 |
| publisher | Dow University of Health Sciences |
| record_format | Article |
| series | Journal of the Dow University of Health Sciences |
| spelling | doaj.art-4117577e089b48e8b6d19faf1c968f1a2023-05-29T03:11:38ZengDow University of Health SciencesJournal of the Dow University of Health Sciences1995-21982410-21802010-08-0142 Microcephaly: tracing the evolutionary lineage of ASPM gene.Mushtaq Hussain0Muhammad Asif Qureshi1Rafiq Muhammad Khanani2Abdul Wajid3Shaheen Shoaib Sharafat4Talat Mirza5Department of Molecular Pathology, Dow University of Health Sciences, Ojha Campus, Karachi, PakistanDepartment of Molecular Pathology, Dow University of Health Sciences, Ojha Campus, Karachi, Pakistan.Dow University of Health SciencesDepartment of Molecular Pathology, Dow University of Health Sciences, Ojha Campus, Karachi, PakistanDepartment of Molecular Pathology, Dow University of Health Sciences, Ojha Campus, Karachi, Pakistan.Department of Molecular Pathology, Dow University of Health Sciences, Ojha Campus, Karachi, Pakistan. Objective: Microcephaly, in the form of congenital autosomal recessive disorder (MCPH), is characterized by the reduced occipital frontal head circumference >3 standard deviation of otherwise normal population of matching age and sex. The disease is primarily associated with mild to severe mental retardation. Earlier studies have unravelled that among Pakistan population, mutations in ASPM gene is strongly associated in MCPH. Experimental Methods: cDNA gene and protein sequences of ASPM gene were retrieved from NCBI database and subjected to the non-redundant BLAST. Consensus phylogenetic tree was developed after multiple sequence alignment and bootstrapping of the protein sequences of ASPM gene from different mammals using Neighbour Joining method, selecting non mammals as an out group. Comparisons of the gene synteny and exon and intron patterns of ASPM gene were also undertaken to investigate chromosomal changes during the course of human evolution. Different statistical evolutionary models namely, Results: Phylogenetic tree based on ASPM gene clearly segregated all non mammalian members as an out group. Mammalian in group holds the established evolutionary lineage, based on morpho-genetic attributes of mammalian evolution, segregating monotremes at the beginning followed by the members of rodentia and finally radiation of the primates including humans. Orientation of the ASPM gene remains conserved between human and chimpanzee, however, it was found reversed along with the flanking genes, a zinc finger binding domain 41 and coagulation factor XIII, which suggest relatively recent event of gene inversion. https://www.jduhs.com/index.php/jduhs/article/view/1321MicrocephalyHuyman EvolutionASPM gene |
| spellingShingle | Mushtaq Hussain Muhammad Asif Qureshi Rafiq Muhammad Khanani Abdul Wajid Shaheen Shoaib Sharafat Talat Mirza Microcephaly: tracing the evolutionary lineage of ASPM gene. Journal of the Dow University of Health Sciences Microcephaly Huyman Evolution ASPM gene |
| title | Microcephaly: tracing the evolutionary lineage of ASPM gene. |
| title_full | Microcephaly: tracing the evolutionary lineage of ASPM gene. |
| title_fullStr | Microcephaly: tracing the evolutionary lineage of ASPM gene. |
| title_full_unstemmed | Microcephaly: tracing the evolutionary lineage of ASPM gene. |
| title_short | Microcephaly: tracing the evolutionary lineage of ASPM gene. |
| title_sort | microcephaly tracing the evolutionary lineage of aspm gene |
| topic | Microcephaly Huyman Evolution ASPM gene |
| url | https://www.jduhs.com/index.php/jduhs/article/view/1321 |
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