Genetics - Chromosome 12

From Embryology

Introduction

12

The one set (or four) of the HOX genes are an important set of developmental patterning genes located on chromosome 12.

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

  • Endometriosis[1] "Developments in high-throughput genotyping technology have driven discovery of genomic regions associated with an increased risk of endometriosis. In all, 16 genomic regions have been associated with risk of endometriosis in one or more populations. The latest meta-analysis including 17,045 endometriosis cases identified 14 genomic regions supported by results from multiple studies. No independent associations were identified from direct genotyping of common and low-frequency protein-coding variants. This suggests that the most common genetic factors that contribute to endometriosis risk are located in regulatory DNA sequences and alter the regulation of gene transcription. Evidence from different methods is essential to identify the target genes and transcripts that contribute to altered disease risk. Potential target genes in three chromosome regions showing altered gene regulation include LINC00339 and CDC42 on chromosome 1, CDKN2A-AS1 on chromosome 9, and VEZT on chromosome 12.
  • Spinocerebellar Ataxia Type 2[2] "Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hypertrophy of the inferior olivary nuclei on proton density- and T2-weighted MRI. This pattern has never been reported in patients with SCA1, SCA3, or SCA6, and may make it possible to differentiate SCA2 from other hereditary spinocerebellar ataxias." Magnetic Resonance Imaging
More recent papers  
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Search term: Chromosome 12

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Development Genes

HOX

Proposed Hox protein classification.jpg

Proposed Hox Protein Classification[3]

WNT

Table - Human Wnt Family
Approved
Symbol
Approved Name Previous
Symbols
Synonyms Chromosome
WNT1 Wnt family member 1 INT1 12q13.12
WNT5B Wnt family member 5B 12p13.33
WNT10B Wnt family member 10B "WNT-12, SHFM6" 12q13.12
    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  
Table - Human Wnt Family
Approved
Symbol
Approved Name Previous
Symbols
Synonyms Chromosome
WNT1 Wnt family member 1 INT1 12q13.12
WNT2 Wnt family member 2 INT1L1 IRP 7q31.2
WNT2B Wnt family member 2B WNT13 XWNT2 1p13.2
WNT3 Wnt family member 3 INT4 "MGC131950, MGC138321, MGC138323" 17q21.31-q21.32
WNT3A Wnt family member 3A 1q42.13
WNT4 Wnt family member 4 WNT-4 1p36.12
WNT5A Wnt family member 5A hWNT5A 3p14.3
WNT5B Wnt family member 5B 12p13.33
WNT6 Wnt family member 6 2q35
WNT7A Wnt family member 7A 3p25.1
WNT7B Wnt family member 7B 22q13.31
WNT8A Wnt family member 8A WNT8D 5q31.2
WNT8B Wnt family member 8B 10q24.31
WNT9A Wnt family member 9A WNT14 1q42.13
WNT9B Wnt family member 9B WNT15 WNT14B 17q21.32
WNT10A Wnt family member 10A 2q35
WNT10B Wnt family member 10B "WNT-12, SHFM6" 12q13.12
WNT11 Wnt family member 11 11q13.5
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 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  

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, September 15) Embryology Genetics - Chromosome 12. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_12

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, September 15) Embryology Genetics - Chromosome 12. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_12

What Links Here?
© Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
  1. Fung JN & Montgomery GW. (2018). Genetics of endometriosis: State of the art on genetic risk factors for endometriosis. Best Pract Res Clin Obstet Gynaecol , , . PMID: 29506960 DOI.
  2. Yoshii F, Tomiyasu H, Watanabe R & Ryo M. (2017). MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2. Case Rep Neurol , 9, 267-271. PMID: 29422848 DOI.
  3. Hueber SD, Weiller GF, Djordjevic MA & Frickey T. (2010). Improving Hox protein classification across the major model organisms. PLoS ONE , 5, e10820. PMID: 20520839 DOI.