Chromosome 7 is one of the 23 pairs of chromosomes in humans. A chromosome is an organized structure of DNA and Protein that is found in cells. Human beings, humans or man (Origin 1590–1600 L homō man OL hemō the earthly one (see Humus People normally have two copies of this chromosome. Chromosome 7 spans more than 158 million base pairs (the building material of DNA) and represents between 5 and 5. In Molecular biology, two Nucleotides on opposite complementary DNA or RNA strands that are connected via Hydrogen bonds are called Deoxyribonucleic acid ( DNA) is a Nucleic acid that contains the genetic instructions used in the development and functioning of all known 5 percent of the total DNA in cells. The cell is the structural and functional unit of all known living Organisms It is the smallest unit of an organism that is classified as living and is often called

Identifying genes on each chromosome is an active area of genetic research. History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 7 likely contains between 1,000 and 1,400 genes. It also contains the Homeobox A gene cluster. A homeobox is a DNA sequence found within Genes that are involved in the regulation of patterns of development ( Morphogenesis) in Animals

Contents 1 Genes 2 Diseases & disorders 3 Chromosomal disorders 4 References

Genes

The following are some of the genes located on chromosome 7:

• ASL: argininosuccinate lyase
• CBX3: chromobox homolog 3
• CCL24: Chemokine (C-C motif) ligand 24 (scya24)
• CCL26: Chemokine (C-C motif) ligand 26 (scya26)
• CCM2: cerebral cavernous malformation 2
• CGRP-RCP: calcitonin gene-related peptide receptor component protein
• CFTR: cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
• COL1A2: collagen, type I, alpha 2
• CYLN2: cytoplasmic linker 2
• DFNA5: deafness, autosomal dominant 5
• DLD: dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)
• ELN: elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
• FOXP2: Forkhead box protein 2
• GARS: glycyl-tRNA synthetase
• GTF2I: general transcription factor II, i
• GTF2IRD1: GTF2I repeat domain containing 1
• GUSB: beta-glucuronidase
• HSPB1: heat shock 27kDa protein 1
• KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2
• KRIT1: KRIT1, ankyrin repeat containing
• LIMK1: LIM domain kinase 1
• NOS3: nitric oxide synthase 3 (endothelial cell)
• p47 phox or NCF1: 47 kDa neutrophil oxidase factor / neutrophil cytosol factor 1
• PMS2: PMS2 postmeiotic segregation increased 2 (S. ASL ( argininosuccinate lyase) is the fourth Enzyme of the Urea cycle. Chromobox homolog 3 (HP1 gamma homolog Drosophila, also known as CBX3, is a human Gene. Chemokine (C-C motif ligand 24 (CCL24 is a small Cytokine belonging to the CC Chemokine family that is also known as Myeloid progenitor inhibitory factor 2 Chemokine (C-C motif ligand 26 (CCL26 is a small Cytokine belonging to the CC Chemokine family that is also called Eotaxin-3 Macrophage inflammatory protein Cerebral cavernous malformation 2, also known as CCM2, is a human Gene. Cystic fibrosis transmembrane conductance regulator ( CFTR) is an ABC transporter -class Protein and Ion channel that transports Chloride Collagen type I alpha 2, also known as COL1A2, is a human Gene. CAP-GLY domain containing linker protein 2, also known as CLIP2, is a human Gene. Deafness autosomal dominant 5, also known as DFNA5, is a human Gene. Dihydrolipoamide dehydrogenase is a Flavoprotein Enzyme which degrades Lipoamide, and produces Dihydrolipoamide. Elastin is a Protein in Connective tissue that is elastic and allows many tissues in the body to resume their shape after stretching or contracting FOXP2 (" forkhead box P2" is a Gene that is implicated in the development of language skills, including grammatical competence Gars is a municipality in the district of Mühldorf in Bavaria in Germany. General transcription factor II i, also known as GTF2I, is a human Gene. GTF2I repeat domain containing 1, also known as GTF2IRD1, is a human Gene. Glucuronidase beta, also known as GUSB, is a human Gene. Hsp27 is a chaperone of the SHsp (small Heat shock protein) group among Ubiquitin, α- Crystallin, Hsp20 and others The hERG ( h uman E ther-a-go-go R elated G ene ( encodes the Kv11 KRIT1 ankyrin repeat containing, also known as KRIT1, is a human Gene. LIM domain kinase 1, also known as LIMK1, is a human Gene. Neutrophil cytosolic factor 1 (chronic granulomatous disease autosomal 1, also known as NCF1, is a human Gene. PMS2 postmeiotic segregation increased 2 (S cerevisiae, also known as PMS2, is a human Gene. cerevisiae)
• RELN: reelin
• SBDS: Shwachman-Bodian-Diamond syndrome
• SLC25A13: solute carrier family 25, member 13 (citrin)
• SLC26A4: solute carrier family 26, member 4
• TAS2R16: taste receptor, type 2, member 16
• TFR2: transferrin receptor 2
• TPST1: tyrosylprotein sulfotransferase 1

Diseases & disorders

The following diseases are some of those related to genes on chromosome 7:

• argininosuccinic aciduria
• cerebral cavernous malformation
• Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, type 2
• citrullinemia
• congenital bilateral absence of vas deferens
• cystic fibrosis
• distal spinal muscular atrophy, type V
• Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, arthrochalasia type
• Ehlers-Danlos syndrome, classical type
• hemochromatosis
• hemochromatosis, type 3
• hereditary nonpolyposis colorectal cancer
• lissencephaly
• maple syrup urine disease
• maturity onset diabetes of the young type 2
• mucopolysaccharidosis type VII or Sly syndrome
• myelodysplastic syndrome
• nonsyndromic deafness
• nonsyndromic deafness, autosomal dominant
• nonsyndromic deafness, autosomal recessive
• osteogenesis imperfecta
• osteogenesis imperfecta, type I
• osteogenesis imperfecta, type II
• osteogenesis imperfecta, type III
• osteogenesis imperfecta, type IV
• p47-phox-deficient chronic granulomatous disease
• Pendred syndrome
• Romano-Ward syndrome
• Shwachman-Diamond syndrome
• Williams syndrome

Chromosomal disorders

The following conditions are caused by changes in the structure or number of copies of chromosome 7:

• Williams syndrome is caused by the deletion of genetic material from a portion of the long (q) arm of chromosome 7. Reelin is a Protein found mainly in the Brain, but also in the spinal cord blood and other body organs and tissues Shwachman-Bodian-Diamond syndrome, also known as SBDS, is a human Gene. Citrin also known as solute carrier family 25 member 13 (citrin or SLC25A13 is a protein associated with type II Citrullinemia. TAS2R16 ( Taste receptor, type 2 member 16) is a Human Gene that encodes for a receptor that may play a role in the perception of Bitterness Transferrin receptor 2, also known as TFR2, is a human Gene. Argininosuccinic aciduria, also called argininosuccinic acidemia, is an Inherited disorder that causes Ammonia to accumulate in the blood and urine Cavernous angioma, also known as cerebral cavernous malformation (CCM cavernous haemangioma, and cavernoma, is a vascular disorder of the Central Charcot-Marie-Tooth disease ( CMT) known also as Hereditary Motor and Sensory Neuropathy ( HMSN) Hereditary Sensorimotor Neuropathy ( HSMN Charcot-Marie-Tooth disease ( CMT) known also as Hereditary Motor and Sensory Neuropathy ( HMSN) Hereditary Sensorimotor Neuropathy ( HSMN Citrullinemia, also called citrullinuria, is an Autosomal recessive Urea cycle disorder that causes Ammonia and other toxic substances Congenital absence of the vas deferens ( CAVD) is a condition in which the two Vas deferens, male reproductive organs fail to form properly Cystic fibrosis (also known as CF, mucoviscoidosis, or mucoviscidosis) is a hereditary disease affecting the exocrine (mucus glands of the lungs Ehlers-Danlos syndrome is a group of rare Genetic disorders affecting humans caused by a defect in Collagen synthesis Haemochromatosis, also spelled hemochromatosis (see spelling differences) also called siderophilia Hereditary nonpolyposis colorectal cancer (HNPCC also known as Lynch syndrome, is characterised by a risk of Colorectal cancer and other cancers of the endometrium Lissencephaly, which literally means smooth brain, is a rare brain formation disorder characterized by the lack of normal convolutions (folds in the brain Maple syrup urine disease (MSUD also called branched-chain ketoaciduria, is an Autosomal Recessive Metabolic disorder affecting Maturity onset diabetes of the young ( MODY) refers to any of several hereditary forms of diabetes caused by mutations in an autosomal dominant gene Sly syndrome, also called Mucopolysaccharidosis Type VII or MPS, is an Autosomal recessive Lysosomal storage disease characterized by a Sly syndrome, also called Mucopolysaccharidosis Type VII or MPS, is an Autosomal recessive Lysosomal storage disease characterized by a The myelodysplastic syndromes (MDS formerly known as "preleukemia" are a diverse collection of hematological conditions united by ineffective production (or Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms Osteogenesis imperfecta ( OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder Pendred syndrome or Pendred disease is a Genetic disorder leading to congenital bilateral (both sides Sensorineural hearing loss and Goitre Romano-Ward syndrome, is the major variant of long QT syndrome. Shwachman-Diamond syndrome (SDS is a rare congenital disorder characterized by Exocrine pancreatic insufficiency Bone marrow dysfunction Skeletal Williams syndrome ( WS; also Williams-Beuren syndrome or WBS) is a rare Neurodevelopmental disorder caused by a deletion of about 26 genes from Williams syndrome ( WS; also Williams-Beuren syndrome or WBS) is a rare Neurodevelopmental disorder caused by a deletion of about 26 genes from The deleted region, which is located at position 11. 23 (written as 7q11. 23), is designated as the Williams syndrome critical region. This region includes more than 20 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of multiple genes in this region.

While a few of the specific genes related to Williams syndrome have been identified, the relationship between most of the genes in the deleted region and the signs and symptoms of Williams syndrome is unknown.

• Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental retardation, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. These changes include an extra copy of part of chromosome 7 in each cell (partial trisomy 7) or a missing segment of the chromosome in each cell (partial monosomy 7). A trisomy is a form of Aneuploidy with the presence of three copies instead of the normal two of a particular Chromosome. Monosomy is a form of Aneuploidy with the presence of only one Chromosome (instead of the typical two in humans from a pair In some cases, several DNA building blocks (nucleotides) are deleted or duplicated in part of chromosome 7. Nucleotides are Organic compounds that consist of three joined structures a nitrogenous base a Sugar, and a Phosphate group A circular structure called ring chromosome 7 is also possible. A ring chromosome is a chromosome whose arms have fused together to form a ring A ring chromosome occurs when both ends of a broken chromosome are reunited.

References

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