Human chromosome 2

Chromosomal ideogram of human chromosome 2

Human chromosome 2 is one of 23 human chromosomes and the second largest, one of human autosomes 22. The chromosome contains more than 242 million base pairs ^[1] , which is almost 8% of the total DNA material of a human cell . Chromosome 2 probably contains 3080 genes ^[1] , including the HOXD gene cluster of homeobox .

Content

Evolution

All members of the hominid family have 24 pairs of chromosomes, except for people who have only 23 pairs. The human 2nd chromosome, according to a widely accepted view, is the result of the fusion of two ancestral chromosomes ^[2] ^[3] .

After the fusion of the two chromosomes, characteristic traces remain: telomere residues and rudimentary centromere

Evidence of the merger is based on the following facts:

The human chromosome corresponds to two monkey chromosomes. The closest human relative, a bonobo , has almost identical DNA sequences on the human chromosome 2, but they are located on two separate chromosomes. The same is true for more distant relatives: the gorilla and the orangutan ^[4] ^[5] .
There are rudimentary centromeres on the human chromosome. Usually the chromosome has only one centromere, but on the long arm of the 2nd chromosome there are remnants of the second ^[6] .
In addition, there are rudimentary telomeres on the human chromosome. Usually, telomeres are located only at the ends of the chromosome, but nucleotide sequences characteristic of telomeres are also observed in the middle of the 2nd chromosome ^[7] .

The 2nd chromosome, therefore, provides strong evidence for the existence of a common ancestor of humans and other monkeys .

Genes

Listed below are some genes located on chromosome 2 :

ABCA12 - ATP-binding cassette ( English ATP-binding cassette ), a member of 12 subfamily A;
ABCG5 - ATP-binding cassette, member 5 of the subfamily G ( sterolin 1);
ABCG8 - ATP-binding cassette, member 8 of the G subfamily (sterolin 2);
AGXT - alanine-glyoxylate-aminotransferase;
ALMS1 - gene 1 associated with Alstrom syndrome ;
ALS2 - gene 2 associated with amyotrophic lateral sclerosis ;
BMPR2 , a receptor for bone morphogenetic protein type II;
CLQTL2 - cholesterol level;
COL3A1 - collagen , type III, alpha 1;
COL4A3 - collagen, type IV, alpha 3;
COL4A4 - collagen, type IV, alpha 4;
COL5A2 - collagen, type V, alpha 2;
GCG , glucagon;
HADHA - α-subunit of mitochondrial trifunctional protein ( eng. Mitochondrial trifunctional protein );
HADHB - β-subunit of the mitochondrial trifunctional protein;
MSH2 is a homolog of mutS 2 ( E. coli );
MSH6 - mutS 6 homolog ( E. coli );
NR4A2 - nuclear receptor ( English nuclear receptor ), a member of group 2 A of the subfamily 4;
NRP2 - neuropilin 2;
OTOF - otoferlin;
PAX3 - containing the paired domain transcription factor ( English Pax genes ) 3;
PAX8 - containing the paired domain transcription factor 8;
PELI1 - homologue of Pellino 1 ( Drosophila );
SLC40A1 is a member of 1 family of solute carriers ( English solute carrier family ) 40 ( ferroportin ).

Shoulder p

CD8 - transmembrane glycoprotein;
JAGN1 - ensures the formation and normal functioning of neutrophil granulocytes ;
LRRTM1 ;
NLRC4 - protein 4 containing the nucleotide-binding domain of oligomerization;
NRXN1 - neurexin 1, association with autism ;
SDC1 - membrane protein , proteoglycan of the syndecan family (CD138);
SRD5A2 - 5-alpha reductase 2;
TPO - thyroid peroxidase.

Shoulder q

ALPI - intestinal alkaline phosphatase ;
AQP12A - water channel from the group of aquaporins ;
AQP12B - water channel from the group of aquaporins ;
DPP4 - membrane hydrolase (CD26);
GAD1 - GABA- producing enzyme glutamate decarboxylase 1;
ErbB4 - membrane protein of the epidermal growth factor receptor family EGFR / ErbB ;
IL1A, IL1B - interleukin 1: alpha and beta;
IL1RN - interleukin 1 receptor antagonist;
ITGA4 is a glycoprotein from the integrin superfamily;
ITGAV is a glycoprotein from the integrin superfamily;
ITGB6 is a glycoprotein from the integrin superfamily (β6);
MDA5 is a receptor of the group of RIG-I-like receptors ;
SCN9A - gene responsible for pain sensitivity;
SP3 - Sp3 transcription factor;
TBR1 - a member of 1 T-box family ( English T-box family );
TTN - Titin ;
VIL1 - Willin 1;
ZNF804A is a zinc-finger protein 804A associated with schizophrenia .

Diseases and disorders

The following are some diseases associated with genes of the 2nd chromosome:

adolescent amyotrophic lateral sclerosis - ALS2 ; ^[8] ^[9]
non- syndromic deafness ( nonsyndromic deafness ), type DFNB9 - OTOF ;
congenital hypothyroidism ( eng. congenital hypothyroidism ) - PAX8 ;
hemochromatosis , type 4 - SLC40A1 ;
children's primary lateral sclerosis ( eng. juvenile primary lateral sclerosis ) - ALS2 ;
long-chain 3-hydroxyacyl-CoA-dehydrogenase deficiency ( English long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency ) - HADHA ;
hereditary non-polypous colorectal cancer ( English hereditary nonpolyposis colorectal cancer ) - MSH2 and MSH6 ;
mitochondrial trifunctional protein deficiency ( English mitochondrial trifunctional protein deficiency ) - HADHA and HADHB ;
primary hyperoxaluria ( eng. primary hyperoxaluria ), type I - AGXT ;
primary pulmonary hypertension ( born primary pulmonary hypertension ) - BMPR2 ;
adult diabetes type in young , type 6 - NEUROD1 ;
Alstrom syndrome - ALMS1 ;
Ichthyosis Arlekino ( eng. Harlequin type ichthyosis ) - ABCA12 ;
Waardenburg syndrome , types I and III - PAX3 ;
Allport syndrome ( eng. Alport syndrome ) - COL4A3 and COL4A4 ;
Ehlers-Danlos syndrome , classical and vascular types - COL5A2 and COL3A1 ;
sitosterolemia ( born sitosterolemia ) - ABCG5 and ABCG8 .

Intellect

Recent studies show that genes on chromosome 2 may play an important role in human intelligence. ^[ten]

Notes

↑ ¹ ² Human chromosome 2 map view (English) . Vertebrate Genome Annotation (VEGA) database . The Wellcome Trust Sanger Institute . - Chromosome map and its main parameters: size, number of genes, etc. Archived April 5, 2012. (Checked August 3, 2009)
↑ Alec MacAndrew . Human Chromosome 2 is a fusion of two ancestral chromosomes (Eng.) . Alec's Evolution Pages . Archived August 20, 2011. (Checked August 4, 2009)
↑ Evidence of Common Ancestry: Human Chromosome 2 (Eng.) . YouTube . - Videotape. (Checked August 4, 2009)
↑ J. J. Yunis, O. Prakash. The origin of man: a chromosomal pictorial legacy (Eng.) // Science . - March 19, 1982 . - Vol. 215, no. 4539 . - P. 1525-1530. - DOI : 10.1126 / science.7063861 . . PMID 7063861 . (Checked July 30, 2010)
↑ Comparison of Human and Great Ape Chromosomes as Evidence for Common Ancestry (Eng.) . The Evolution Evidence Page . Archived August 20, 2011. (Checked August 4, 2009)
↑ Rosamaria Avarello, Antonio Pedicini, Angela Caiulo, Orsetta Zuffardi, and Marco Fraccaro. For example, human chromosome 2 (Eng.) // Human Genetics . - Springer Berlin / Heidelberg , May, 1992 . - Vol. 89, no. 2 - P. 247-249. - DOI : 10.1007 / BF00217134 . . ISSN 0340-6717. PMID 1587535 . (Checked July 30, 2010)
↑ J.W. IJdo, A. Baldini, D.C. Ward, S.T. Reeders, and R.A. Wells. Origin of human chromosome 2: an anestral telomere-telomere fusion (Eng.) // Proceedings of the National Academy of Sciences . - National Academy of Sciences , October 15, 1991 . - Vol. 88, no. 20 - P. 9051-9055. - DOI : 10.1073 / pnas.88.20.9051 . . PMID 1924367 . (Checked July 30, 2010)
↑ Shinji Hadano, Collette K. Hand, Hitoshi Osuga, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 (English) // Nature Genetics . - October, 2001 . - Vol. 29, no. 2 - P. 166-173. DOI : 10.1038 / ng1001-166 . PMID 11586298 . (Checked November 19, 2009)
↑ Yi Yang, Afif Hentati, Han-Xiang Deng, et al. The gene encoding of a protein with the three guanine-nucleotide exchange factor is a recessive amyotrophic lateral sclerosis (English) // Nature Genetics . - 2001, October . - Vol. 29, no. 2 - P. 160-165. DOI : 10.1038 / ng1001-160 . PMID 11586297 . (Checked November 19, 2009)
↑ Mark A. Wainwright, Margaret J. Wright, Michelle Luciano, Grant W. Montgomery, Gina M. Geffen, and Nicholas G. Martin. Defined by the Queensland Core Skills Test (Eng.) // Behavior Genetics . - Springer Netherlands , January, 2006 . - Vol. 36, no. 1 . - P. 56—64. Archived August 20, 2006.

[vega-1] ¹ ² Human chromosome 2 map view (English) . Vertebrate Genome Annotation (VEGA) database . The Wellcome Trust Sanger Institute . - Chromosome map and its main parameters: size, number of genes, etc. Archived April 5, 2012. (Checked August 3, 2009)

[macandrew-2] Alec MacAndrew . Human Chromosome 2 is a fusion of two ancestral chromosomes (Eng.) . Alec's Evolution Pages . Archived August 20, 2011. (Checked August 4, 2009)

[youtube-3] Evidence of Common Ancestry: Human Chromosome 2 (Eng.) . YouTube . - Videotape. (Checked August 4, 2009)

[yunisprakash1982-4] J. J. Yunis, O. Prakash. The origin of man: a chromosomal pictorial legacy (Eng.) // Science . - March 19, 1982 . - Vol. 215, no. 4539 . - P. 1525-1530. - DOI : 10.1126 / science.7063861 . . PMID 7063861 . (Checked July 30, 2010)

[similarities-5] Comparison of Human and Great Ape Chromosomes as Evidence for Common Ancestry (Eng.) . The Evolution Evidence Page . Archived August 20, 2011. (Checked August 4, 2009)

[avarello1992-6] Rosamaria Avarello, Antonio Pedicini, Angela Caiulo, Orsetta Zuffardi, and Marco Fraccaro. For example, human chromosome 2 (Eng.) // Human Genetics . - Springer Berlin / Heidelberg , May, 1992 . - Vol. 89, no. 2 - P. 247-249. - DOI : 10.1007 / BF00217134 . . ISSN 0340-6717. PMID 1587535 . (Checked July 30, 2010)

[ijdo1991-7] J.W. IJdo, A. Baldini, D.C. Ward, S.T. Reeders, and R.A. Wells. Origin of human chromosome 2: an anestral telomere-telomere fusion (Eng.) // Proceedings of the National Academy of Sciences . - National Academy of Sciences , October 15, 1991 . - Vol. 88, no. 20 - P. 9051-9055. - DOI : 10.1073 / pnas.88.20.9051 . . PMID 1924367 . (Checked July 30, 2010)

[hadano2001-8] Shinji Hadano, Collette K. Hand, Hitoshi Osuga, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 (English) // Nature Genetics . - October, 2001 . - Vol. 29, no. 2 - P. 166-173. DOI : 10.1038 / ng1001-166 . PMID 11586298 . (Checked November 19, 2009)

[yang2001-9] Yi Yang, Afif Hentati, Han-Xiang Deng, et al. The gene encoding of a protein with the three guanine-nucleotide exchange factor is a recessive amyotrophic lateral sclerosis (English) // Nature Genetics . - 2001, October . - Vol. 29, no. 2 - P. 160-165. DOI : 10.1038 / ng1001-160 . PMID 11586297 . (Checked November 19, 2009)

[wainwright2006-10] Mark A. Wainwright, Margaret J. Wright, Michelle Luciano, Grant W. Montgomery, Gina M. Geffen, and Nicholas G. Martin. Defined by the Queensland Core Skills Test (Eng.) // Behavior Genetics . - Springer Netherlands , January, 2006 . - Vol. 36, no. 1 . - P. 56—64. Archived August 20, 2006.