Describe the current state of the human beta globin gene family and the processes that were involved in generating it from a single ancestral globin gene. How do the members of the gene family differ and how do these differences relate to their expression and function? How does the human beta globin gene family differ from the beta globin gene families in other vertebrates? What do these differences imply about the evolution of this gene family in different species; are the same processes that shaped the human gene family also at work in the other species and if so why are the gene families different in the other species? What differences in the beta globin genes are found among the current human population and what are the genetic consequences of these differences? Solution human -globin locus are composed of five gene, that are located on short chromosome number 11, This locus also contains the delta, gamma-A, gamma-G, and epsilon globin. Expression of all genes are controlled by a single locus control region, and all beta genes are differentially expressed during development. Duplication + divergence of ancestral gene is the major process involve in generation of beta gene form single ancestral globin gene. Human beta globulin gene come under gene family because of gene family is set of various similar gene that form by duplication of single original Gene & almost similar biochemical function. Gene family member are different in several way 1. arrangement of genes directly reflect to differentiation of their the expression during development. For proper Functioning required another alpha globin for complete function for example- Hemoglobin protein is made of two alpha and two beta polypeptide are encoded by different gene. Globin genes are similar in structure Each gene encoded similar but different protein. 2. Expression of gene is regulated in the embryonic erythropoiesis by the many transcription factors like [KLF1] and that which is associated with upregulation of the adult and another [KLF2] which are vital to expression of the embryonic hemoglobin. beta-globin gene are clustered & work as unit of gene regulation, embryo --> express epsilon, fetal --> express gamma, adult --> express beta (and delta) Gene order-position-location- important for regulation of gene. the human beta globin gen family different form beta globin gene family in vertebrate- 1.Polyploidy occurs more often in plant genome than in animal one or at least vertebrate genomes. 2. loss of intron- first & third intron only two intron found in vertebrate hemoglobin & myoglobin genes. Thecentral intron was lost before the divergence of annelids & arthropods and absent in all the vertebrate hemoglobin and myoglobin genes. Intron loss has in different organisms & there is extreme example of the total intron loss in arthropod Chironomus. 3. major gene duplications in vertebrate globin’s. evolution of this gen family in difference species- Gene families are the groups of the.

1. Describe the current state of the human beta globin gene family and the processes that were
involved in generating it from a single ancestral globin gene. How do the members of the gene
family differ and how do these differences relate to their expression and function? How does the
human beta globin gene family differ from the beta globin gene families in other vertebrates?
What do these differences imply about the evolution of this gene family in different species; are
the same processes that shaped the human gene family also at work in the other species and if so
why are the gene families different in the other species? What differences in the beta globin
genes are found among the current human population and what are the genetic consequences of
these differences?
Solution
human -globin locus are composed of five gene, that are located on short chromosome number
11, This locus also contains the delta, gamma-A, gamma-G, and epsilon globin. Expression of all
genes are controlled by a single locus control region, and all beta genes are differentially
expressed during development.
Duplication + divergence of ancestral gene is the major process involve in generation of beta
gene form single ancestral globin gene.
Human beta globulin gene come under gene family because of gene family is set of various
similar gene that form by duplication of single original Gene & almost similar biochemical
function.
Gene family member are different in several way 1. arrangement of genes directly reflect to
differentiation of their the expression during development. For proper Functioning required
another alpha globin for complete function for example- Hemoglobin protein is made of two
alpha and two beta polypeptide are encoded by different gene. Globin genes are similar in
structure Each gene encoded similar but different protein.
2. Expression of gene is regulated in the embryonic erythropoiesis by the many transcription
factors like [KLF1] and that which is associated with upregulation of the adult and another
[KLF2] which are vital to expression of the embryonic hemoglobin.
beta-globin gene are clustered & work as unit of gene regulation, embryo --> express epsilon,
fetal --> express gamma, adult --> express beta (and delta) Gene order-position-location-
important for regulation of gene.
the human beta globin gen family different form beta globin gene family in vertebrate-
1.Polyploidy occurs more often in plant genome than in animal one or at least vertebrate
genomes.

2. 2. loss of intron- first & third intron only two intron found in vertebrate hemoglobin &
myoglobin genes. Thecentral intron was lost before the divergence of annelids & arthropods and
absent in all the vertebrate hemoglobin and myoglobin genes. Intron loss has in different
organisms & there is extreme example of the total intron loss in arthropod Chironomus. 3. major
gene duplications in vertebrate globin’s.
evolution of this gen family in difference species-
Gene families are the groups of the related genes that are share the common ancestor. . gene
families may beparalogs( similar sequences from within the same species) + orthologs(similar
sequences in different species).
Evolution by 1.mutigene family, 2.
Superfamilies,3.duplication,4.relocation,5.divergence,6.Concerted evolution
why are the gene family different form the other species ?- Over evolutionary time the gene
families have been expanded & contracted with new gene families are formed & some gene
families are lost, In various evolutionary lineages. The genes are gained & lost at nearly same
rates.and natural selection would favour to additional gene copies. So adaptive gene get
expanded. And new gene family developed over a generation. And natural selection work
equally on all species, so adaptive gene expanded over a evolutionary time
last part of question already given in above paragraph