Genetics - Chromosome 7: Difference between revisions
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==Abnormality Genes== | ==Abnormality Genes== | ||
* {{triphalangeal thumb}} anomaly has been mapped to chromosome region {{Chr7}}q36 and caused by point mutations in the ZPA regulatory sequence (ZRS) which is a long-range cis-regulator for the {{SHH}} gene.{{#pmid:18417549|PMID18417549}}{{#pmid:29543231|PMID29543231}} | * {{triphalangeal thumb}} anomaly has been mapped to chromosome region {{Chr7}}q36 and caused by point mutations in the ZPA regulatory sequence (ZRS) which is a long-range cis-regulator for the {{SHH}} gene.{{#pmid:18417549|PMID18417549}}{{#pmid:29543231|PMID29543231}} | ||
* Monosomy {{Chr7}}q11.23, {{Chr7}}q11.23 deletion) [[Williams Syndrome]] (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). | |||
==External Links== | ==External Links== |
Revision as of 11:11, 3 May 2020
Introduction
Chromosome territories (interphase) | Chromosome (Chromatin) structure (mitosis) |
Human Chromosomes: 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | X | Y |
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Chromosome 7 <pubmed limit=5>Chromosome 7</pubmed> |
Development Genes
WNT
Table - Human Wnt Family | ||||
Approved Symbol |
Approved Name | Previous Symbols |
Synonyms | Chromosome |
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WNT2 | Wnt family member 2 | INT1L1 | IRP | 7q31.2 |
WNT16 | Wnt family member 16 | 7q31.31 | ||
Links: Developmental Signals - Wnt | OMIM Wnt1 | HGNC | Bmp Family | Fgf Family | Pax Family | R-spondin Family | Sox Family | Tbx Family | Wnt Family |
Human WNT Family | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Abnormality Genes
- triphalangeal thumb anomaly has been mapped to chromosome region 7q36 and caused by point mutations in the ZPA regulatory sequence (ZRS) which is a long-range cis-regulator for the SHH gene.[2][3]
- Monosomy 7q11.23, 7q11.23 deletion) Williams Syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty).
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
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Idiogram Chromosome Banding - The term refers to the light and dark pattern, seen after staining with a dye, of individual chromosomes identified in metaphase. It is only in meiosis and mitosis during metaphase that chromosomes can be easily identified, during the normal cell life (interphase) the chromosomes are unravelled and distributed within the nucleus in chromosome territories. A band is that part of a chromosome which is clearly distinguishable from nearby regions by appearing darker or brighter with one or more banding techniques. | |
Genetic abnormality locations: 1-4 | 5-8 | 9-12 | 13-16 | 17-20 | 21-XY | sSMC | |
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Links: Genetics | Abnormal Development - Genetic |
Cite this page: Hill, M.A. (2024, June 27) Embryology Genetics - Chromosome 7. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_7
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
Cite this page: Hill, M.A. (2024, June 27) Embryology Genetics - Chromosome 7. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_7
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
- ↑ Velker BAM, Denomme MM, Krafty RT & Mann MRW. (2017). Maintenance ofMestimprinted methylation in blastocyst-stage mouse embryos is less stable than other imprinted loci following superovulation or embryo culture. Environ Epigenet , 3, dvx015. PMID: 29492315 DOI.
- ↑ Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH & Zhang X. (2008). Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. J. Med. Genet. , 45, 589-95. PMID: 18417549 DOI.
- ↑ Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N & de Klein A. (2018). A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome. Genet. Med. , , . PMID: 29543231 DOI.