كروموسوم 5 (بشري)

Chromosome 5.svg

الكروموسوم 5، هو واحد من 23 زوج من الكروموسومات البشرية. عادة ما يمتلك البشر زوجان من هذا الكروموسوم. يحتوي الكروموسوم 5 على 181 مليون زوج قاعدي (مادة بناء الدنا) ويمثل حوالي 6% من إجمالي الدنا في الخلايا. الكروموسوم 5 من أكبر الكروموسومات البشرية، حتى الآن هو أحد أقل الكروموسات كثافة بالجينات. يتمثل ذلك بعدد من المناطق ذات الجينات القليلة والتي تظهر بصورة كبيرة في الحفظ الجيني الغير مرمز للفقاريات الغير ثديية، مما يدل على أنها مقيدة وظيفياً.[1]

نظراً لاختلاف المناهج التي يستخدمها الباحثون في التنبؤ بعدد الجينات في كل كروموسوم، هناك تباين في أعداد الجينات المقدرة. من الأرجح أن الكروموسوم 5 يحتوي على 900-1.300 جين.

الكروموسوم 5 مسئول عن الكثير من أشكال نمو وتطور (تقسيمات الخلية) التغيرات المسببة للسرطان، ومن أمثلتها ابيضاض الدم النقوي الحاد. [2]

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الجينات

القائمة التالية للجينات الواقعة على الكروموسوم 5:

  • ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif, 2
  • APC: adenomatosis polyposis coli
  • CAST: Calpastatin
  • EGR1: early growth response protein 1
  • ERAP1: endoplasmic reticulum aminopeptidase 1 (previously called ARTS-1)
  • ERAP2: endoplasmic reticulum aminopeptidase 2
  • DTDST: diastrophic dysplasia sulfate transporter
  • ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
  • FGFR4: fibroblast growth factor receptor 4
  • GM2A: GM2 ganglioside activator
  • HEXB: hexosaminidase B (beta polypeptide)
  • MASS1: monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
  • MCCC2: methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
  • MEF2C: Myocyte-specific enhancer factor 2C
  • MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • NIPBL: Nipped-B homolog (Drosophila)
  • NSD1: Transcription coregulator protein
  • Pikachurin: Responsible for the functioning of the ribbon synapses; allows the eye to track moving objects
  • SLC22A5: solute carrier family 22 (organic cation transporter), member 5
  • SLC26A2: solute carrier family 26 (sulfate transporter), member 2
  • SMN1: survival motor neuron 1, telomeric
  • SMN2: survival motor neuron 2, centromeric
  • SNCAIP: synuclein, alpha interacting protein (synphilin)
  • SPINK5: serine protease inhibitor Kazal-type 5 (LEKTI)
  • SPINK6: serine protease inhibitor Kazal-type 6
  • SPINK9: serine protease inhibitor Kazal-type 9 (LEKTI-2)
  • TCOF1: Treacher Collins-Franceschetti syndrome 1
  • TGFBI: keratoepithelin
  • TTC37: Tetratricopeptide repeat domain 37
  • FGF1: fibroblast growth factor 1 (acidic fibroblast growth factor)


الأمراض والاضطرابات

القائمة التالية للأمراض المرتبطة بالجينات الواقعة على الكروموسوم 5:

الحالات المرضية الكروموسومية

القائمة التالية للحالات المرضية التي تنتج عن تغيرات في بنية أو عدد نسخ الكروموسوم 5:

  • Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes in this region. Researchers have not identified all of these genes or determined how their loss leads to the features of the disorder. They have discovered, however, that a larger deletion tends to result in more severe mental retardation and developmental delays in people with cri-du-chat syndrome.
Researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome. A specific region designated 5p15.3 is associated with a cat-like cry, and a nearby region called 5p15.2 is associated with mental retardation, small head (microcephaly), and distinctive facial features.
  • Familial Adenomatous Polyposis is caused by a deletion of the APC tumor suppressor gene on the long (q) arm of chromosome 5. This chromosomal change results in thousands of colonic polyps which gives the patient a 100% risk of colon cancer if total colectomy is not done.
  • Other changes in the number or structure of chromosome 5 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other medical problems. Changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 5p or 5q), a missing segment of the long arm of the chromosome in each cell (partial monosomy 5q), and a circular structure called ring chromosome 5. A ring chromosome occurs when both ends of a broken chromosome are reunited.

المصادر

  1. ^ http://genome.jgi-psf.org/chr5/chr5.home.html
  2. ^ http://ghr.nlm.nih.gov/chromosome/5
  • Cornish K, Bramble D (2002). "Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management". Dev Med Child Neurol. 44 (7): 494–7. doi:10.1017/S0012162201002419. PMID 12162388.
  • Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD (2001). "Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation". J Med Genet. 38 (3): 151–8. doi:10.1136/jmg.38.3.151. PMC 1734829. PMID 11238681.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Schafer IA, Robin NH, Posch JJ, Clark BA, Izumo S, Schwartz S (2001). "Distal 5q deletion syndrome: phenotypic correlations". Am J Med Genet. 103 (1): 63–8. doi:10.1002/ajmg.1513. PMID 11562936.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM (2004). "The DNA sequence and comparative analysis of human chromosome 5". Nature. 431 (7006): 268–74. doi:10.1038/nature02919. PMID 15372022.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Siddiqi R, Gilbert F (2003). "Chromosome 5". Genet Test. 7 (2): 169–87. doi:10.1089/109065703322146902. PMID 12885343.
  • Wu Q, Niebuhr E, Yang H, Hansen L (2005). "Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR". Eur J Hum Genet. 13 (4): 475–85. doi:10.1038/sj.ejhg.5201345. PMID 15657623.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D (2005). "High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization". Am J Hum Genet. 76 (2): 312–26. doi:10.1086/427762. PMC 1196376. PMID 15635506.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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