Genetics - Chromosome 17

From Embryology

Introduction

17
Nucleus structure cartoon 01.jpg Chromatin Structure.png
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

  • Charcot-Marie-Tooth (CMT) disease[1] "Charcot-Marie-Tooth (CMT) disease is a hereditary demyelinating disease of the peripheral nervous system that results in sensory and motor dysfunction. CMT includes a spectrum of diseases with different types of mutations in the genes encoding myelin protein, resulting in a variety of dysfunctions in its life cycle. In CMT subtype 1A there is duplication mutation of peripheral myelin protein 22 gene on chromosome 17."
  • Chromosome 17 miRNAs regulating cancer genes[2] "Chromosome 17 (Chr17) harbors crucial genes that encode proteins implicated in a variety of cancers, including some that guard cancer cells from genomic instability and others that interfere with metastasis. Included amongst the genes on chr17 that regulate biological processes fundamental to the genesis of cancer are TP53, BRCA1, CCL5, NF-1, and GRB7. As many as 50% of all human tumors and at least 30% of breast carcinomas contain p53 mutations, while 30%-40% of breast cancers have defective BRCA1. A large number of proteins regulate the expression of these cancer genes on chr17 with miRNAs, the most widely studied class of regulatory RNAs, playing a major role in epigenetically controlling the gene expression programs, thereby managing various cellular functions. This review provides information on the genes transcribed from chr17, and their regulation by miRNAs in the context to tumorigenesis located on chr17, along with an analysis of the receptor status (estrogen, progesterone, and Her2/Neu) from the miRNA prediction data of miRNA genes located on chr17." microRNA
More recent papers  
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Search term: Chromosome 17

Development Genes

TBX

Table - Human Tbx Family
Approved
Symbol
Approved Name Previous Symbols Synonyms Chromosome
TBX2 T-box 2 17q23.2
TBX4 T-box 4 17q23.2
TBX21 T-box 21 "TBLYM, T-bet" 17q21.32
    Links: Developmental Signals - Tbx | OMIM Tbx3 | HGNC | Bmp Family | Sox Family | Tbx Family
Human TBX Family  
Table - Human Tbx Family
Approved
Symbol
Approved Name Previous Symbols Synonyms Chromosome
TBX1 T-box 1 VCF CATCH22 22q11.21
TBX2 T-box 2 17q23.2
TBX3 T-box 3 UMS "TBX3-ISO, XHL" 12q24.21
TBX4 T-box 4 17q23.2
TBX5 T-box 5 HOS 12q24.21
TBX6 T-box 6 16p11.2
TBX10 T-box 10 TBX7 TBX13 11q13.2
TBX15 T-box 15 TBX14 1p12
TBX18 T-box 18 6q14.3
TBX19 T-box 19 "dj747L4.1, TPIT" 1q24.2
TBX20 T-box 20 7p14.2
TBX21 T-box 21 "TBLYM, T-bet" 17q21.32
TBX22 T-box 22 "CPX, CLPA" Xq21.1
TBX23P T-box 23, pseudogene TBX23 1q25
TBR1 T-box, brain 1 2q24.2
EOMES eomesodermin TBR2 3p24.1
MGA MGA, MAX dimerization protein "KIAA0518, MAD5, MXD5, FLJ12634" 15q15
TBXT T-box transcription factor T T 6q27
    Links: Developmental Signals - Tbx | OMIM Tbx3 | HGNC | Bmp Family | Sox Family | Tbx Family

Abnormalities

In 1994, two breast cancer susceptibility genes were identified BRCA1 on chromosome 17 and BRCA2 on chromosome 13.


External Links

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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  
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.
Human Idiogram: 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | X | Y
Genetic abnormality locations: 1-4 | 5-8 | 9-12 | 13-16 | 17-20 | 21-XY | sSMC
Inheritance Pattern images: Genetic Abnormalities | autosomal dominant | autosomal recessive | X-linked dominant (affected father) | X-Linked dominant (affected mother) | X-Linked recessive (affected father) | X-Linked recessive (carrier mother) | mitochondrial inheritance | Codominant inheritance | Genogram symbols | Genetics
Links: Genetics | Abnormal Development - Genetic

Cite this page: Hill, M.A. (2019, July 24) Embryology Genetics - Chromosome 17. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_17

What Links Here?
© Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G



Cite this page: Hill, M.A. (2019, July 24) Embryology Genetics - Chromosome 17. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_17

What Links Here?
© Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
  1. . (). . , , . PMID: 229511693
  2. Achyutuni S, Nadhan R, Sengodan SK & Srinivas P. (2017). The prodigious network of chromosome 17 miRNAs regulating cancer genes that influence the hallmarks of cancer. Semin. Oncol. , 44, 254-264. PMID: 29526253 DOI.